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