Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual

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

doi:10.1016/j.scr.2020.101820

Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual

Stem Cell Res. 2020 Jul:46:101820. doi: 10.1016/j.scr.2020.101820. Epub 2020 May 28.

Authors

Lara Schöning¹, Niki Tomas Loges¹, Yvonne Nitschke¹, Inga Marlena Höben¹, Albrecht Röpke², Laura Crisponi³, Heymut Omran¹, Frank Rutsch⁴, Insa Buers¹

Affiliations

¹ Department of General Pediatrics, Muenster University Children's Hospital, Muenster, Germany.
² Institute of Human Genetics, University of Muenster, Muenster, Germany.
³ Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, Italy.
⁴ Department of General Pediatrics, Muenster University Children's Hospital, Muenster, Germany. Electronic address: [email protected].

PMID: 32492556
DOI: 10.1016/j.scr.2020.101820

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.

MeSH terms

Facies
Hand Deformities, Congenital*
Humans
Hyperhidrosis*
Induced Pluripotent Stem Cells*
Sweating