Reprogramming of human Peripheral Blood Mononuclear Cell (PBMC) from a Chinese patient suffering Duchenne muscular dystrophy to iPSC line (SDQLCHi007-A) carrying deletion of 49–50 exons in the DMD gene

Duchenne muscular dystrophy (DMD), an X-linked genetic disorder characterized by progressive muscle weakness and atrophies affecting skeletal and cardiac muscles, is caused by mutations in dystrophin (DMD) gene that spans 79 exons. Here, we generated iPSCs from a Chinese patient with 49–50 exons del...

Full description

Bibliographic Details
Main Authors: Jingyun Guan, Xinnong Liu, Haiyan Zhang, Xiaomeng Yang, Yanyan Ma, Yue Li, Zhongtao Gai, Yi Liu
Format: Article
Language:English
Published: Elsevier 2020-01-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S187350611930296X
_version_ 1818996896171032576
author Jingyun Guan
Xinnong Liu
Haiyan Zhang
Xiaomeng Yang
Yanyan Ma
Yue Li
Zhongtao Gai
Yi Liu
author_facet Jingyun Guan
Xinnong Liu
Haiyan Zhang
Xiaomeng Yang
Yanyan Ma
Yue Li
Zhongtao Gai
Yi Liu
author_sort Jingyun Guan
collection DOAJ
description Duchenne muscular dystrophy (DMD), an X-linked genetic disorder characterized by progressive muscle weakness and atrophies affecting skeletal and cardiac muscles, is caused by mutations in dystrophin (DMD) gene that spans 79 exons. Here, we generated iPSCs from a Chinese patient with 49–50 exons deletion in DMD gene by reprogramming peripheral blood mononuclear cells with non-integrating vectors. The generated iPSCs line (SDQLCHi007-A) carrying the identical deletion of 49–50 exons, expresses pluripotency markers, presents a normal karyotype and is able to differentiate into three germ layers. Keywords: DMD gene, iPSCs, PBMC
first_indexed 2024-12-20T21:37:01Z
format Article
id doaj.art-90d7a772257949cb9555d898f38e6120
institution Directory Open Access Journal
issn 1873-5061
language English
last_indexed 2024-12-20T21:37:01Z
publishDate 2020-01-01
publisher Elsevier
record_format Article
series Stem Cell Research
spelling doaj.art-90d7a772257949cb9555d898f38e61202022-12-21T19:25:54ZengElsevierStem Cell Research1873-50612020-01-0142Reprogramming of human Peripheral Blood Mononuclear Cell (PBMC) from a Chinese patient suffering Duchenne muscular dystrophy to iPSC line (SDQLCHi007-A) carrying deletion of 49–50 exons in the DMD geneJingyun Guan0Xinnong Liu1Haiyan Zhang2Xiaomeng Yang3Yanyan Ma4Yue Li5Zhongtao Gai6Yi Liu7Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaDepartment of Vascular Surgery, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037,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, 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.Duchenne muscular dystrophy (DMD), an X-linked genetic disorder characterized by progressive muscle weakness and atrophies affecting skeletal and cardiac muscles, is caused by mutations in dystrophin (DMD) gene that spans 79 exons. Here, we generated iPSCs from a Chinese patient with 49–50 exons deletion in DMD gene by reprogramming peripheral blood mononuclear cells with non-integrating vectors. The generated iPSCs line (SDQLCHi007-A) carrying the identical deletion of 49–50 exons, expresses pluripotency markers, presents a normal karyotype and is able to differentiate into three germ layers. Keywords: DMD gene, iPSCs, PBMChttp://www.sciencedirect.com/science/article/pii/S187350611930296X
spellingShingle Jingyun Guan
Xinnong Liu
Haiyan Zhang
Xiaomeng Yang
Yanyan Ma
Yue Li
Zhongtao Gai
Yi Liu
Reprogramming of human Peripheral Blood Mononuclear Cell (PBMC) from a Chinese patient suffering Duchenne muscular dystrophy to iPSC line (SDQLCHi007-A) carrying deletion of 49–50 exons in the DMD gene
Stem Cell Research
title Reprogramming of human Peripheral Blood Mononuclear Cell (PBMC) from a Chinese patient suffering Duchenne muscular dystrophy to iPSC line (SDQLCHi007-A) carrying deletion of 49–50 exons in the DMD gene
title_full Reprogramming of human Peripheral Blood Mononuclear Cell (PBMC) from a Chinese patient suffering Duchenne muscular dystrophy to iPSC line (SDQLCHi007-A) carrying deletion of 49–50 exons in the DMD gene
title_fullStr Reprogramming of human Peripheral Blood Mononuclear Cell (PBMC) from a Chinese patient suffering Duchenne muscular dystrophy to iPSC line (SDQLCHi007-A) carrying deletion of 49–50 exons in the DMD gene
title_full_unstemmed Reprogramming of human Peripheral Blood Mononuclear Cell (PBMC) from a Chinese patient suffering Duchenne muscular dystrophy to iPSC line (SDQLCHi007-A) carrying deletion of 49–50 exons in the DMD gene
title_short Reprogramming of human Peripheral Blood Mononuclear Cell (PBMC) from a Chinese patient suffering Duchenne muscular dystrophy to iPSC line (SDQLCHi007-A) carrying deletion of 49–50 exons in the DMD gene
title_sort reprogramming of human peripheral blood mononuclear cell pbmc from a chinese patient suffering duchenne muscular dystrophy to ipsc line sdqlchi007 a carrying deletion of 49 50 exons in the dmd gene
url http://www.sciencedirect.com/science/article/pii/S187350611930296X
work_keys_str_mv AT jingyunguan reprogrammingofhumanperipheralbloodmononuclearcellpbmcfromachinesepatientsufferingduchennemusculardystrophytoipsclinesdqlchi007acarryingdeletionof4950exonsinthedmdgene
AT xinnongliu reprogrammingofhumanperipheralbloodmononuclearcellpbmcfromachinesepatientsufferingduchennemusculardystrophytoipsclinesdqlchi007acarryingdeletionof4950exonsinthedmdgene
AT haiyanzhang reprogrammingofhumanperipheralbloodmononuclearcellpbmcfromachinesepatientsufferingduchennemusculardystrophytoipsclinesdqlchi007acarryingdeletionof4950exonsinthedmdgene
AT xiaomengyang reprogrammingofhumanperipheralbloodmononuclearcellpbmcfromachinesepatientsufferingduchennemusculardystrophytoipsclinesdqlchi007acarryingdeletionof4950exonsinthedmdgene
AT yanyanma reprogrammingofhumanperipheralbloodmononuclearcellpbmcfromachinesepatientsufferingduchennemusculardystrophytoipsclinesdqlchi007acarryingdeletionof4950exonsinthedmdgene
AT yueli reprogrammingofhumanperipheralbloodmononuclearcellpbmcfromachinesepatientsufferingduchennemusculardystrophytoipsclinesdqlchi007acarryingdeletionof4950exonsinthedmdgene
AT zhongtaogai reprogrammingofhumanperipheralbloodmononuclearcellpbmcfromachinesepatientsufferingduchennemusculardystrophytoipsclinesdqlchi007acarryingdeletionof4950exonsinthedmdgene
AT yiliu reprogrammingofhumanperipheralbloodmononuclearcellpbmcfromachinesepatientsufferingduchennemusculardystrophytoipsclinesdqlchi007acarryingdeletionof4950exonsinthedmdgene