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Updated: Dec 19, 2025

Generation of Induced Pluripotent Stem Cells from Frozen Buffy Coats using Non-integrating Episomal Plasmids
Published on: June 5, 2015
Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual
Lara Schöning1, Niki Tomas Loges1, Yvonne Nitschke1
1Department of General Pediatrics, Muenster University Children's Hospital, Muenster, Germany.
Abstract:
Cytokine receptor like factor 1 (CRLF1) is the gene implicated, when mutated, in Crisponi syndrome/cold-induced sweating syndrome type 1 (CS/CISS1). Here, we report the establishment of induced pluripotent stem cell lines (iPSCs) from fibroblasts of a Turkish CS/CISS1 individual with a homozygous variant in CRLF1 (c.708_709delinsT; p.[Pro238Argfs*6]). This variant is the most frequent variant associated to CS/CISS1 in the Turkish population. These patient derived iPSC lines show all pluripotency markers, a normal karyotype and the ability to differentiate into the three germ layers.
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