Generation of an induced pluripotent stem cell line (ZZUi022-A) from a paroxysmal kinesigenic dyskinesia individual carrying the PRRT2 gene mutation

Generation of an induced pluripotent stem cell line (ZZUi022-A) from a paroxysmal kinesigenic dyskinesia individual carrying the PRRT2 gene mutation

Paroxysmal kinesigenic dyskinesia (PKD), the most common type of paroxysmal movement disorders, is caused by mutations in PRRT2 gene. We identified an unreported PRRT2 c. 535 C > T (p. Q 1 7 9 *) pathogenic mutation in a Chinese Han family with PKD and generated an induced pluripotent stem cell (...

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Main Authors: Liyuan Fan, Chengyuan Mao, Changhe Shi, Yu Fan, Fen Liu, Huimin Zheng, Yun Su, Han Liu, Yanlin Wang, Yu-tao Liu, Jing Yang, Yuming Xu
Format: Article
Language:English
Published: Elsevier 2021-03-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121000568
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spelling doaj-4c733dbcdb134223834934a15f5460ab2021-03-13T04:22:22ZengElsevierStem Cell Research1873-50612021-03-0151102210Generation of an induced pluripotent stem cell line (ZZUi022-A) from a paroxysmal kinesigenic dyskinesia individual carrying the PRRT2 gene mutationLiyuan Fan0Chengyuan Mao1Changhe Shi2Yu Fan3Fen Liu4Huimin Zheng5Yun Su6Han Liu7Yanlin Wang8Yu-tao Liu9Jing Yang10Yuming Xu11Department of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; Academy of Medical Sciences of Zhengzhou University, Zhengzhou, Henan, ChinaDepartment of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, ChinaDepartment of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, ChinaDepartment of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; Academy of Medical Sciences of Zhengzhou University, Zhengzhou, Henan, ChinaDepartment of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; Academy of Medical Sciences of Zhengzhou University, Zhengzhou, Henan, ChinaDepartment of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, ChinaDepartment of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, ChinaDepartment of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, ChinaDepartment of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, ChinaDepartment of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, ChinaDepartment of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; Corresponding authors.Department of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; Corresponding authors.Paroxysmal kinesigenic dyskinesia (PKD), the most common type of paroxysmal movement disorders, is caused by mutations in PRRT2 gene. We identified an unreported PRRT2 c. 535 C > T (p. Q 1 7 9 *) pathogenic mutation in a Chinese Han family with PKD and generated an induced pluripotent stem cell (iPSC) line from a patient in the family by reprogramming fibroblasts with sendai virus. The iPSC line was characterized for genetic uniqueness, genomic integrity, pluripotency, and differentiation ability. This iPSC line will be a powerful tool to to study the molecular mechanisms underlying PKD.http://www.sciencedirect.com/science/article/pii/S1873506121000568
collection DOAJ
language English
format Article
sources DOAJ
author Liyuan Fan
Chengyuan Mao
Changhe Shi
Yu Fan
Fen Liu
Huimin Zheng
Yun Su
Han Liu
Yanlin Wang
Yu-tao Liu
Jing Yang
Yuming Xu
spellingShingle Liyuan Fan
Chengyuan Mao
Changhe Shi
Yu Fan
Fen Liu
Huimin Zheng
Yun Su
Han Liu
Yanlin Wang
Yu-tao Liu
Jing Yang
Yuming Xu
Generation of an induced pluripotent stem cell line (ZZUi022-A) from a paroxysmal kinesigenic dyskinesia individual carrying the PRRT2 gene mutation
Stem Cell Research
author_facet Liyuan Fan
Chengyuan Mao
Changhe Shi
Yu Fan
Fen Liu
Huimin Zheng
Yun Su
Han Liu
Yanlin Wang
Yu-tao Liu
Jing Yang
Yuming Xu
author_sort Liyuan Fan
title Generation of an induced pluripotent stem cell line (ZZUi022-A) from a paroxysmal kinesigenic dyskinesia individual carrying the PRRT2 gene mutation
title_short Generation of an induced pluripotent stem cell line (ZZUi022-A) from a paroxysmal kinesigenic dyskinesia individual carrying the PRRT2 gene mutation
title_full Generation of an induced pluripotent stem cell line (ZZUi022-A) from a paroxysmal kinesigenic dyskinesia individual carrying the PRRT2 gene mutation
title_fullStr Generation of an induced pluripotent stem cell line (ZZUi022-A) from a paroxysmal kinesigenic dyskinesia individual carrying the PRRT2 gene mutation
title_full_unstemmed Generation of an induced pluripotent stem cell line (ZZUi022-A) from a paroxysmal kinesigenic dyskinesia individual carrying the PRRT2 gene mutation
title_sort generation of an induced pluripotent stem cell line (zzui022-a) from a paroxysmal kinesigenic dyskinesia individual carrying the prrt2 gene mutation
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2021-03-01
description Paroxysmal kinesigenic dyskinesia (PKD), the most common type of paroxysmal movement disorders, is caused by mutations in PRRT2 gene. We identified an unreported PRRT2 c. 535 C > T (p. Q 1 7 9 *) pathogenic mutation in a Chinese Han family with PKD and generated an induced pluripotent stem cell (iPSC) line from a patient in the family by reprogramming fibroblasts with sendai virus. The iPSC line was characterized for genetic uniqueness, genomic integrity, pluripotency, and differentiation ability. This iPSC line will be a powerful tool to to study the molecular mechanisms underlying PKD.
url http://www.sciencedirect.com/science/article/pii/S1873506121000568
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