Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line

Crisponi syndrome/cold-induced sweating syndrome type 2 (CS/CISS2) is a rare disease with severe dysfunctions of thermoregulatory processes. CS/CISS2 individuals suffer from recurrent episodes of hyperthermia in the neonatal period and paradoxical sweating at cold ambient temperatures in adolescence...

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Bibliographic Details
Published in:	Stem cell research Vol. 46; p. 101855
Main Authors:	Buers, Insa, Schöning, Lara, Tomas Loges, Niki, Nitschke, Yvonne, Höben, Inga Marlena, Röpke, Albrecht, Crisponi, Laura, Omran, Heymut, Rutsch, Frank
Format:	Journal Article
Language:	English
Published:	Elsevier B.V 01.07.2020 Elsevier
ISSN:	1873-5061, 1876-7753, 1876-7753
Online Access:	Get full text
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Summary:	Crisponi syndrome/cold-induced sweating syndrome type 2 (CS/CISS2) is a rare disease with severe dysfunctions of thermoregulatory processes. CS/CISS2 individuals suffer from recurrent episodes of hyperthermia in the neonatal period and paradoxical sweating at cold ambient temperatures in adolescence. Variants in CLCF1 (cardiotrophin-like-cytokine 1) cause CS/CISS2. Here, we summarize the generation of three clones of one stem cell line (iPSC) of a CS/CISS2 individual carrying the CLCF1 variant c.321C>G on both alleles. These patient derived iPSC clones show a normal karyotype, several pluripotency markers, and the ability to differentiate into the three germ layers.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1873-5061 1876-7753 1876-7753
DOI:	10.1016/j.scr.2020.101855