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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Published in:Stem cell research 2020-07, Vol.46, p.101855-101855, Article 101855
Main Authors: Buers, Insa, Schöning, Lara, Tomas Loges, Niki, Nitschke, Yvonne, Höben, Inga Marlena, Röpke, Albrecht, Crisponi, Laura, Omran, Heymut, Rutsch, Frank
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container_title Stem cell research
container_volume 46
creator Buers, Insa
Schöning, Lara
Tomas Loges, Niki
Nitschke, Yvonne
Höben, Inga Marlena
Röpke, Albrecht
Crisponi, Laura
Omran, Heymut
Rutsch, Frank
description 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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title Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line
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