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. 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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Buers I, Schöning L, Tomas Loges N, Nitschke Y, Höben IM, Röpke A, Crisponi L, Omran H, Rutsch F
Journal Stem cell research
Publication Date 2020 Jul;46:101855
PubMed 32512309
DOI 10.1016/j.scr.2020.101855

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