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

Crisponi 综合征/冷诱发出汗综合征 2 型:将 CS/CISS2 个体衍生的成纤维细胞重编程为一个 iPSC 系的三个克隆

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作者:Insa Buers, Lara Schöning, Niki Tomas Loges, Yvonne Nitschke, Inga Marlena Höben, Albrecht Röpke, Laura Crisponi, Heymut Omran, Frank Rutsch

Abstract

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.

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