Chromosomal quality control in hPSCs: A practical guide to SNP array analysis with GenomeStudio.
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| Názov: | Chromosomal quality control in hPSCs: A practical guide to SNP array analysis with GenomeStudio. |
|---|---|
| Autori: | Haake J; Department of Human and Animal Cell Lines, Leibniz Institute DSMZ - German Collection of Microorganisms and Cell Cultures GmbH, Braunschweig, Germany., Steenpass L; Department of Human and Animal Cell Lines, Leibniz Institute DSMZ - German Collection of Microorganisms and Cell Cultures GmbH, Braunschweig, Germany.; Zoological Institute, Technical University Braunschweig, Braunschweig, Germany. |
| Zdroj: | Frontiers in cell and developmental biology [Front Cell Dev Biol] 2025 Jul 01; Vol. 13, pp. 1599923. Date of Electronic Publication: 2025 Jul 01 (Print Publication: 2025). |
| Spôsob vydávania: | Journal Article |
| Jazyk: | English |
| Informácie o časopise: | Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101630250 Publication Model: eCollection Cited Medium: Print ISSN: 2296-634X (Print) Linking ISSN: 2296634X NLM ISO Abbreviation: Front Cell Dev Biol Subsets: PubMed not MEDLINE |
| Imprint Name(s): | Original Publication: Lausanne : Frontiers Media S.A., [2013]- |
| Abstrakt: | Human pluripotent stem cells (hPSCs) are important tools in preclinical research and disease modeling. Valid results can only be obtained using thoroughly quality-controlled hPSCs, which includes ensuring chromosomal stability. Chromosomal aberrations, which frequently arise during reprogramming, gene editing, or maintenance cultivation, can compromise the utility of these cells in research and therapeutic applications. Although traditional G-banding remains a valuable genome-wide analysis method, its limited resolution necessitates complementary approaches. SNP array analysis offers a high-resolution alternative, providing a more detailed genomic overview. We present a practical and user-friendly guide for detecting chromosomal aberrations using Illumina's GenomeStudio, offering an easy-to-follow protocol to simplify quality control workflows for researchers with minimal bioinformatics expertise. Although SNP array analysis for hPSC quality control is not novel, this step-by-step guide highlights critical quality control metrics, thresholds, and values, streamlining the process to make it more accessible and efficient for broader adoption. In 32 hPSCs, we identified chromosomal aberrations in nine, including the frequently reported gain of 20q11.21-a common anomaly in hPSC cultures. Examples from our routine practices underscore the importance of monitoring chromosomal integrity. This guide serves as a practical resource for standardizing and enhancing quality control processes, ensuring the genomic stability of hPSCs for research and clinical applications. (Copyright © 2025 Haake and Steenpass.) |
| Competing Interests: | The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. |
| References: | Curr Gene Ther. 2013 Apr;13(2):93-8. (PMID: 23317057) Proc Natl Acad Sci U S A. 2003 Feb 4;100(3):998-1003. (PMID: 12525695) Genome Res. 2014 Dec;24(12):2022-32. (PMID: 25236618) Curr Protoc. 2022 Nov;2(11):e606. (PMID: 36426882) Nat Biotechnol. 2011 May 08;29(6):512-20. (PMID: 21552272) Proc Natl Acad Sci U S A. 2010 Oct 12;107(41):17668-73. (PMID: 20876107) BMC Genomics. 2013 Jul 18;14:487. (PMID: 23865711) J Med Genet. 2004 Dec;41(12):916-22. (PMID: 15591277) Stem Cell Res. 2025 Mar;83:103648. (PMID: 39764974) Stem Cell Res. 2024 Aug;78:103454. (PMID: 38843694) Nat Genet. 2025 Feb;57(2):390-401. (PMID: 39779957) Int J Mol Sci. 2021 Jan 05;22(1):. (PMID: 33466384) Stem Cell Reports. 2017 Jul 11;9(1):1-4. (PMID: 28700896) Hum Mol Genet. 2010 Apr 1;19(7):1263-75. (PMID: 20053666) BMC Genomics. 2021 Nov 17;22(1):826. (PMID: 34789167) Nat Biotechnol. 2004 Jan;22(1):53-4. (PMID: 14661028) BMC Genomics. 2005 Oct 06;6:140. (PMID: 16209714) Genome Res. 2006 Sep;16(9):1136-48. (PMID: 16899659) Mutat Res. 2005 Jun 3;573(1-2):70-82. (PMID: 15829238) Stem Cell Res. 2021 Jul;54:102449. (PMID: 34216980) Hum Genet. 2020 Nov;139(11):1403-1415. (PMID: 32451733) Genet Med Open. 2023;1(1):100836. (PMID: 39346101) Nucleic Acids Res. 2001 Jan 1;29(1):308-11. (PMID: 11125122) Dev Cell. 2021 Sep 13;56(17):2455-2470.e10. (PMID: 34407428) Genome Res. 2009 Feb;19(2):276-83. (PMID: 19141597) Mol Cytogenet. 2023 Jun 10;16(1):10. (PMID: 37301962) J Clin Invest. 2025 Feb 03;135(3):. (PMID: 39895626) Sci Rep. 2020 Oct 29;10(1):18582. (PMID: 33122739) PLoS One. 2010 Dec 30;5(12):e14456. (PMID: 21209939) BMC Genet. 2016 May 04;17(1):64. (PMID: 27142071) Science. 2002 Aug 9;297(5583):1003-7. (PMID: 12169732) Biotechnol J. 2007 Jan;2(1):41-9. (PMID: 17225249) Stem Cell Reports. 2019 Jul 9;13(1):163-176. (PMID: 31178415) Genet Med. 2013 Sep;15(9):706-12. (PMID: 23558256) Genes Chromosomes Cancer. 1994 Aug;10(4):221-30. (PMID: 7522535) Int J Mol Sci. 2024 Jan 15;25(2):. (PMID: 38256141) Front Genet. 2022 Feb 11;12:747431. (PMID: 35222511) Front Plant Sci. 2018 Feb 06;9:104. (PMID: 29467780) Mol Hum Reprod. 2014 Feb;20(2):168-77. (PMID: 24217388) Stem Cell Reports. 2016 Nov 8;7(5):998-1012. (PMID: 27829140) BMC Bioinformatics. 2014 Feb 21;15:50. (PMID: 24555668) Nat Protoc. 2014 Nov;9(11):2643-62. (PMID: 25321409) Nat Methods. 2006 Jan;3(1):31-3. (PMID: 16369550) Sci Rep. 2022 May 25;12(1):8834. (PMID: 35614300) Chromosome Res. 2020 Jun;28(2):155-169. (PMID: 31776830) PLoS One. 2011;6(10):e26975. (PMID: 22073121) Am J Hum Genet. 2005 Jul;77(1):78-88. (PMID: 15918152) Genome Res. 2007 Nov;17(11):1665-74. (PMID: 17921354) ALTEX. 2021 May 06;38(4):595-614. (PMID: 33963415) BMC Genomics. 2012 Jul 20;13:326. (PMID: 22817656) Genome Res. 2001 Jun;11(6):1005-17. (PMID: 11381028) World J Gastroenterol. 2007 Mar 21;13(11):1672-9. (PMID: 17461469) PLoS One. 2010 Jul 02;5(7):e11417. (PMID: 20625389) Vet Clin North Am Food Anim Pract. 1993 Mar;9(1):11-22. (PMID: 8457921) BMC Bioinformatics. 2008 Oct 02;9:409. (PMID: 18831757) BMC Genomics. 2021 Feb 24;22(1):133. (PMID: 33627065) Bioinformatics. 2019 Aug 15;35(16):2847-2849. (PMID: 30596895) Nat Biotechnol. 2007 Feb;25(2):207-15. (PMID: 17287758) Nucleic Acids Res. 2009 Jul;37(13):4181-93. (PMID: 19570852) Sci Rep. 2015 Nov 26;5:17258. (PMID: 26607962) Brief Funct Genomic Proteomic. 2009 Sep;8(5):353-66. (PMID: 19737800) Nucleic Acids Res. 2014 Jan;42(Database issue):D986-92. (PMID: 24174537) Semin Oncol. 2012 Feb;39(1):13-25. (PMID: 22289488) Stem Cell Res. 2024 Jun;77:103403. (PMID: 38555715) PLoS One. 2008 Mar 12;3(3):e1783. (PMID: 18335054) Curr Protoc Hum Genet. 2013 Oct 18;79:1.27.1-1.27.15. (PMID: 24510649) Stem Cells Dev. 2021 Jun 1;30(11):578-586. (PMID: 33757297) Methods Mol Biol. 2012;838:291-310. (PMID: 22228018) Nat Rev Mol Cell Biol. 2020 Dec;21(12):715-728. (PMID: 32968234) Stem Cell Reports. 2013 Oct 31;1(5):379-86. (PMID: 24286026) Nat Genet. 1997 Sep;17(1):21-4. (PMID: 9288093) Stem Cell Reports. 2023 Sep 12;18(9):1744-1752. (PMID: 37703820) Cell Stem Cell. 2011 Jan 7;8(1):106-18. (PMID: 21211785) Nat Biotechnol. 2011 Nov 27;29(12):1132-44. (PMID: 22119741) Cell Stem Cell. 2022 Dec 1;29(12):1624-1636. (PMID: 36459966) BMC Genomics. 2021 Jul 2;22(1):496. (PMID: 34215180) Hum Hered. 2011;71(3):141-7. (PMID: 21778733) Poult Sci. 2016 Aug 1;95(8):1750-6. (PMID: 27118864) Genome Res. 2009 Sep;19(9):1682-90. (PMID: 19592680) Genome Med. 2020 Jan 30;12(1):14. (PMID: 32000839) |
| Contributed Indexing: | Keywords: B-allele frequency; GenomeStudio; SNP array analysis; chromosomal stability in hPSCs; log R ratio; quality control of hPSCs |
| Entry Date(s): | Date Created: 20250716 Latest Revision: 20250718 |
| Update Code: | 20250718 |
| PubMed Central ID: | PMC12259632 |
| DOI: | 10.3389/fcell.2025.1599923 |
| PMID: | 40666289 |
| Databáza: | MEDLINE |
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