Generation and characterization of iPSC lines (BCH001) from a boy with intron 14 mutation in the ret proto-oncogene (RET) gene

Generation and characterization of iPSC lines (BCH001) from a boy with intron 14 mutation in the ret proto-oncogene (RET) gene

Congenital central hypoventilation syndrome (CCHS) is characterized by an alteration of the ventilatory response to hypercapnia and hypoxia, and is classically presented in neonates with abnormalities of the autonomic nervous system. Here, we generated human induced pluripotent stem cell (iPSC) line...

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Main Authors: Zhifei Xu, Dandi Ma, Yunxiao Wu, Liang Wang, Yuanjie Zhang, Xin Ni
Format: Article
Language:English
Published: Elsevier 2021-05-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121002051
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spelling doaj-72d3874c4fb1451fae08e143d8b89f9c2021-05-30T04:41:44ZengElsevierStem Cell Research1873-50612021-05-0153102359Generation and characterization of iPSC lines (BCH001) from a boy with intron 14 mutation in the ret proto-oncogene (RET) geneZhifei Xu0Dandi Ma1Yunxiao Wu2Liang Wang3Yuanjie Zhang4Xin Ni5Department of Respiratory Medicine, Beijing Children’s Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, ChinaDepartment of Pediatrics, Beijing Children’s Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, ChinaBeijing Key Laboratory of Pediatric Otolaryngology, Head & Neck Surgery, Beijing Children’s Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, ChinaDepartment of Immunology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100005, ChinaDepartment of Pediatrics, Beijing Children’s Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, ChinaDepartment of Otolaryngology, Head and Neck Surgery, Beijing Children’s Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China; Corresponding author.Congenital central hypoventilation syndrome (CCHS) is characterized by an alteration of the ventilatory response to hypercapnia and hypoxia, and is classically presented in neonates with abnormalities of the autonomic nervous system. Here, we generated human induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) isolated from a male patient clinically diagnosed with CCHS. These iPSC lines carry a heterozygous RET mutation (c.2608-125C > T), express pluripotency markers, have the capacity to differentiate into the normal teratoma tissue, retain the RET mutation and display the normal karyotype, which will also provide a useful resource to study the pathogenesis of CCHS.http://www.sciencedirect.com/science/article/pii/S1873506121002051
collection DOAJ
language English
format Article
sources DOAJ
author Zhifei Xu
Dandi Ma
Yunxiao Wu
Liang Wang
Yuanjie Zhang
Xin Ni
spellingShingle Zhifei Xu
Dandi Ma
Yunxiao Wu
Liang Wang
Yuanjie Zhang
Xin Ni
Generation and characterization of iPSC lines (BCH001) from a boy with intron 14 mutation in the ret proto-oncogene (RET) gene
Stem Cell Research
author_facet Zhifei Xu
Dandi Ma
Yunxiao Wu
Liang Wang
Yuanjie Zhang
Xin Ni
author_sort Zhifei Xu
title Generation and characterization of iPSC lines (BCH001) from a boy with intron 14 mutation in the ret proto-oncogene (RET) gene
title_short Generation and characterization of iPSC lines (BCH001) from a boy with intron 14 mutation in the ret proto-oncogene (RET) gene
title_full Generation and characterization of iPSC lines (BCH001) from a boy with intron 14 mutation in the ret proto-oncogene (RET) gene
title_fullStr Generation and characterization of iPSC lines (BCH001) from a boy with intron 14 mutation in the ret proto-oncogene (RET) gene
title_full_unstemmed Generation and characterization of iPSC lines (BCH001) from a boy with intron 14 mutation in the ret proto-oncogene (RET) gene
title_sort generation and characterization of ipsc lines (bch001) from a boy with intron 14 mutation in the ret proto-oncogene (ret) gene
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2021-05-01
description Congenital central hypoventilation syndrome (CCHS) is characterized by an alteration of the ventilatory response to hypercapnia and hypoxia, and is classically presented in neonates with abnormalities of the autonomic nervous system. Here, we generated human induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) isolated from a male patient clinically diagnosed with CCHS. These iPSC lines carry a heterozygous RET mutation (c.2608-125C > T), express pluripotency markers, have the capacity to differentiate into the normal teratoma tissue, retain the RET mutation and display the normal karyotype, which will also provide a useful resource to study the pathogenesis of CCHS.
url http://www.sciencedirect.com/science/article/pii/S1873506121002051
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