Cellosaurus cell line SHIPMi001-A (CVCL

Cross-references
Cell line name	SHIPMi001-A
Synonyms	SHIi001
Accession	CVCL_B0JP
Resource Identification Initiative	To cite this cell line use: SHIPMi001-A (RRID:CVCL_B0JP)
Comments	From: Shanghai Institute of Precision Medicine, Shanghai Jiao Tong University School of Medicine; Shanghai; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:7551; MYBPC3; Simple; p.Leu460Trpfs*6 (c.1377delC); ClinVar=VCV000188548; Zygosity=Heterozygous (PubMed=34785479).
Disease	Familial hypertrophic cardiomyopathy type 4 (NCIt: C133725) Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	56Y
Category	Induced pluripotent stem cell
Publications	PubMed=34785479; DOI=10.1016/j.scr.2021.102594 Yue Wang, Wei-Yao Xiong, Shuang-Xia Zhao, Bin Li, Alex Chia-Yu Chang; Generation of two induced pluripotent stem cell lines, SHIPMi001-A from a patient with hypertrophic cardiomyopathy caused by MYBPC3 gene mutation and SHIPMi002-A from a healthy male individual. Stem Cell Res. 57:102594-102594(2021)
Cell line databases/resources	hPSCreg; SHIPMi001-A
Biological sample resources	BioSamples; SAMEA9676225
Encyclopedic resources	Wikidata; Q108821303
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	6