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

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 va...

Full description

Bibliographic Details
Main Authors:	Lara Schöning, Niki Tomas Loges, Yvonne Nitschke, Inga Marlena Höben, Albrecht Röpke, Laura Crisponi, Heymut Omran, Frank Rutsch, Insa Buers
Format:	Article
Language:	English
Published:	Elsevier 2020-07-01
Series:	Stem Cell Research
Online Access:	http://www.sciencedirect.com/science/article/pii/S1873506120301227

id	doaj-f106bf553f9549a3b4806dbee37c0634
record_format	Article
spelling	doaj-f106bf553f9549a3b4806dbee37c06342020-11-25T02:51:21ZengElsevierStem Cell Research1873-50612020-07-0146101820Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individualLara Schöning0Niki Tomas Loges1Yvonne Nitschke2Inga Marlena Höben3Albrecht Röpke4Laura Crisponi5Heymut Omran6Frank Rutsch7Insa Buers8Department 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, Germany; Corresponding author.Department of General Pediatrics, Muenster University Children's Hospital, Muenster, GermanyCytokine 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.http://www.sciencedirect.com/science/article/pii/S1873506120301227
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Lara Schöning Niki Tomas Loges Yvonne Nitschke Inga Marlena Höben Albrecht Röpke Laura Crisponi Heymut Omran Frank Rutsch Insa Buers
spellingShingle	Lara Schöning Niki Tomas Loges Yvonne Nitschke Inga Marlena Höben Albrecht Röpke Laura Crisponi Heymut Omran Frank Rutsch Insa Buers Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual Stem Cell Research
author_facet	Lara Schöning Niki Tomas Loges Yvonne Nitschke Inga Marlena Höben Albrecht Röpke Laura Crisponi Heymut Omran Frank Rutsch Insa Buers
author_sort	Lara Schöning
title	Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual
title_short	Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual
title_full	Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual
title_fullStr	Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual
title_full_unstemmed	Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual
title_sort	generation of induced pluripotent stem cell lines from a crisponi/cold induced sweating syndrome type 1 individual
publisher	Elsevier
series	Stem Cell Research
issn	1873-5061
publishDate	2020-07-01
description	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.
url	http://www.sciencedirect.com/science/article/pii/S1873506120301227
work_keys_str_mv	AT laraschoning generationofinducedpluripotentstemcelllinesfromacrisponicoldinducedsweatingsyndrometype1individual AT nikitomasloges generationofinducedpluripotentstemcelllinesfromacrisponicoldinducedsweatingsyndrometype1individual AT yvonnenitschke generationofinducedpluripotentstemcelllinesfromacrisponicoldinducedsweatingsyndrometype1individual AT ingamarlenahoben generationofinducedpluripotentstemcelllinesfromacrisponicoldinducedsweatingsyndrometype1individual AT albrechtropke generationofinducedpluripotentstemcelllinesfromacrisponicoldinducedsweatingsyndrometype1individual AT lauracrisponi generationofinducedpluripotentstemcelllinesfromacrisponicoldinducedsweatingsyndrometype1individual AT heymutomran generationofinducedpluripotentstemcelllinesfromacrisponicoldinducedsweatingsyndrometype1individual AT frankrutsch generationofinducedpluripotentstemcelllinesfromacrisponicoldinducedsweatingsyndrometype1individual AT insabuers generationofinducedpluripotentstemcelllinesfromacrisponicoldinducedsweatingsyndrometype1individual
_version_	1724735082089938944

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

Similar Items