Cellosaurus cell line ZJUi005-A (CVCL

Cross-references
Cell line name	ZJUi005-A
Synonyms	ZJU-iPS-PMD-PLP1-001
Accession	CVCL_ZE47
Resource Identification Initiative	To cite this cell line use: ZJUi005-A (RRID:CVCL_ZE47)
Comments	From: Women's Hospital, Zhejiang University School of Medicine; Hangzhou; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:9086; PLP1; Simple; p.Leu146Pro (c.437T>C); Zygosity=Hemizygous (PubMed=32402715).
Disease	Pelizaeus-Merzbacher disease (NCIt: C75487) Pelizaeus-Merzbacher disease (ORDO: Orphanet_702)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	18Y
Category	Induced pluripotent stem cell
Publications	PubMed=32402715; DOI=10.1016/j.scr.2020.101791 Bei Liu, Lang Chen, Jian Sun, Li Zhang, Min Chen, Ye-Qing Qian, Yan-Lin Wang, Kai Yan, Lin-Xiao Hou, Ying-Zhi Huang, Dan Zhang ...Show all 15 authors... , Yu-Ming Xu, Jia-Ling Yu, Jin Zhang, Min-Yue Dong; Show fewer authors Generation of the human induced pluripotent stem cell line (ZJUi005-A) from a patient with Pelizaeus-Merzbacher disease (PMD) carrying a novel hemizygous mutation in PLP1 gene. Stem Cell Res. 45:101791-101791(2020)
Cell line databases/resources	hPSCreg; ZJUi005-A SKIP; SKIP005797
Encyclopedic resources	Wikidata; Q98136564
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7