Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC

An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells of a 3-day-old boy with 47,XXY and ornithine transcarbamylase deficiency carrying hemizygote mutation (c.663+2T>G (sliping)) in OTC. The iPSCs had original 47,XXY, and mutation in OTC, expressing pl...

Full description

Bibliographic Details
Main Authors: Xiaomeng Yang, Beibei Yan, Haiyan Zhang, Yanyan Ma, Qi Zhou, Yue Li, Jingyun Guan, Dong Wang, Yi Liu, Zhongtao Gai
Format: Article
Language:English
Published: Elsevier 2020-03-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506120300064
id doaj-8d56b93f1ff04e91bf5c386630ab40dd
record_format Article
spelling doaj-8d56b93f1ff04e91bf5c386630ab40dd2020-11-25T03:07:38ZengElsevierStem Cell Research1873-50612020-03-0143Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTCXiaomeng Yang0Beibei Yan1Haiyan Zhang2Yanyan Ma3Qi Zhou4Yue Li5Jingyun Guan6Dong Wang7Yi Liu8Zhongtao Gai9Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaNeonatology Department, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaNeonatology Department, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China; Corresponding authors.Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China; Corresponding authors.An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells of a 3-day-old boy with 47,XXY and ornithine transcarbamylase deficiency carrying hemizygote mutation (c.663+2T>G (sliping)) in OTC. The iPSCs had original 47,XXY, and mutation in OTC, expressing pluripotency markers and bearing differentiation potential in vitro.http://www.sciencedirect.com/science/article/pii/S1873506120300064
collection DOAJ
language English
format Article
sources DOAJ
author Xiaomeng Yang
Beibei Yan
Haiyan Zhang
Yanyan Ma
Qi Zhou
Yue Li
Jingyun Guan
Dong Wang
Yi Liu
Zhongtao Gai
spellingShingle Xiaomeng Yang
Beibei Yan
Haiyan Zhang
Yanyan Ma
Qi Zhou
Yue Li
Jingyun Guan
Dong Wang
Yi Liu
Zhongtao Gai
Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC
Stem Cell Research
author_facet Xiaomeng Yang
Beibei Yan
Haiyan Zhang
Yanyan Ma
Qi Zhou
Yue Li
Jingyun Guan
Dong Wang
Yi Liu
Zhongtao Gai
author_sort Xiaomeng Yang
title Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC
title_short Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC
title_full Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC
title_fullStr Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC
title_full_unstemmed Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC
title_sort generation of an induced pluripotent stem cell line (sdqlchi009-a) from a patient with 47,xxy and ornithine transcarbamylase deficiency carrying a hemizygote mutation in otc
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2020-03-01
description An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells of a 3-day-old boy with 47,XXY and ornithine transcarbamylase deficiency carrying hemizygote mutation (c.663+2T>G (sliping)) in OTC. The iPSCs had original 47,XXY, and mutation in OTC, expressing pluripotency markers and bearing differentiation potential in vitro.
url http://www.sciencedirect.com/science/article/pii/S1873506120300064
work_keys_str_mv AT xiaomengyang generationofaninducedpluripotentstemcelllinesdqlchi009afromapatientwith47xxyandornithinetranscarbamylasedeficiencycarryingahemizygotemutationinotc
AT beibeiyan generationofaninducedpluripotentstemcelllinesdqlchi009afromapatientwith47xxyandornithinetranscarbamylasedeficiencycarryingahemizygotemutationinotc
AT haiyanzhang generationofaninducedpluripotentstemcelllinesdqlchi009afromapatientwith47xxyandornithinetranscarbamylasedeficiencycarryingahemizygotemutationinotc
AT yanyanma generationofaninducedpluripotentstemcelllinesdqlchi009afromapatientwith47xxyandornithinetranscarbamylasedeficiencycarryingahemizygotemutationinotc
AT qizhou generationofaninducedpluripotentstemcelllinesdqlchi009afromapatientwith47xxyandornithinetranscarbamylasedeficiencycarryingahemizygotemutationinotc
AT yueli generationofaninducedpluripotentstemcelllinesdqlchi009afromapatientwith47xxyandornithinetranscarbamylasedeficiencycarryingahemizygotemutationinotc
AT jingyunguan generationofaninducedpluripotentstemcelllinesdqlchi009afromapatientwith47xxyandornithinetranscarbamylasedeficiencycarryingahemizygotemutationinotc
AT dongwang generationofaninducedpluripotentstemcelllinesdqlchi009afromapatientwith47xxyandornithinetranscarbamylasedeficiencycarryingahemizygotemutationinotc
AT yiliu generationofaninducedpluripotentstemcelllinesdqlchi009afromapatientwith47xxyandornithinetranscarbamylasedeficiencycarryingahemizygotemutationinotc
AT zhongtaogai generationofaninducedpluripotentstemcelllinesdqlchi009afromapatientwith47xxyandornithinetranscarbamylasedeficiencycarryingahemizygotemutationinotc
_version_ 1724669286154240000