Cellosaurus cell line HUSTTJi001-A (CVCL

Cross-references
Cell line name	HUSTTJi001-A
Accession	CVCL_B3TA
Resource Identification Initiative	To cite this cell line use: HUSTTJi001-A (RRID:CVCL_B3TA)
Comments	From: Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology; Wuhan; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:14539; RNF213; Simple; p.Arg4810Lys (c.14429G>A); ClinVar=VCV000039700; Zygosity=Heterozygous (PubMed=34749017).
Disease	Moyamoya disease 2 (NCIt: C183312) Moyamoya disease (ORDO: Orphanet_2573)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	50Y
Category	Induced pluripotent stem cell
Publications	PubMed=34749017; DOI=10.1016/j.scr.2021.102575 Zhi-Juan Mao, Yun-Jie Li, Liang-Jiang Huang, Yun-Qiang Chen, Hong-Mei Luo, Su-Ming Zhang, Hong Chen; Generation of an induced pluripotent stem cell line HUSTTJi001-A from a Moyamoya disease patient with RNF213 gene mutation. Stem Cell Res. 57:102575-102575(2021)
Cell line databases/resources	hPSCreg; HUSTTJi001-A
Biological sample resources	BioSamples; SAMEA9537268
Encyclopedic resources	Wikidata; Q110432900
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5