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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Main Authors:	Insa Buers, Lara Schöning, Niki Tomas Loges, Yvonne Nitschke, Inga Marlena Höben, Albrecht Röpke, Laura Crisponi, Heymut Omran, Frank Rutsch
Format:	Article
Language:	English
Published:	Elsevier 2020-07-01
Series:	Stem Cell Research
Online Access:	http://www.sciencedirect.com/science/article/pii/S1873506120301562

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spelling	doaj-1f0bde6615a14ea19143637a736d22db2020-11-25T03:07:30ZengElsevierStem Cell Research1873-50612020-07-0146101855Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC lineInsa Buers0Lara Schöning1Niki Tomas Loges2Yvonne Nitschke3Inga Marlena Höben4Albrecht Röpke5Laura Crisponi6Heymut Omran7Frank Rutsch8Department of General Pediatrics, Muenster University Children’s Hospital, Muenster, Germany; Corresponding author.Department of General Pediatrics, Muenster University Children’s Hospital, Muenster, GermanyDepartment of General Pediatrics, Muenster University Children’s Hospital, Muenster, GermanyDepartment of General Pediatrics, Muenster University Children’s Hospital, Muenster, GermanyDepartment of General Pediatrics, Muenster University Children’s Hospital, Muenster, GermanyInstitute of Human Genetics, University of Muenster, Muenster, GermanyIstituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, ItalyDepartment of General Pediatrics, Muenster University Children’s Hospital, Muenster, GermanyDepartment of General Pediatrics, Muenster University Children’s Hospital, Muenster, GermanyCrisponi 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.http://www.sciencedirect.com/science/article/pii/S1873506120301562
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Insa Buers Lara Schöning Niki Tomas Loges Yvonne Nitschke Inga Marlena Höben Albrecht Röpke Laura Crisponi Heymut Omran Frank Rutsch
spellingShingle	Insa Buers Lara Schöning Niki Tomas Loges Yvonne Nitschke Inga Marlena Höben Albrecht Röpke Laura Crisponi Heymut Omran Frank Rutsch Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line Stem Cell Research
author_facet	Insa Buers Lara Schöning Niki Tomas Loges Yvonne Nitschke Inga Marlena Höben Albrecht Röpke Laura Crisponi Heymut Omran Frank Rutsch
author_sort	Insa Buers
title	Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line
title_short	Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line
title_full	Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line
title_fullStr	Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line
title_full_unstemmed	Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line
title_sort	crisponi syndrome/cold-induced sweating syndrome type 2: reprogramming of cs/ciss2 individual derived fibroblasts into three clones of one ipsc line
publisher	Elsevier
series	Stem Cell Research
issn	1873-5061
publishDate	2020-07-01
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.
url	http://www.sciencedirect.com/science/article/pii/S1873506120301562
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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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