ID   SHIPMi001-A
AC   CVCL_B0JP
SY   SHIi001
DR   BioSamples; SAMEA9676225
DR   hPSCreg; SHIPMi001-A
DR   Wikidata; Q108821303
RX   PubMed=34785479;
CC   From: Shanghai Institute of Precision Medicine, Shanghai Jiao Tong University School of Medicine; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 7551; MYBPC3; Simple; p.Leu460Trpfs*6 (c.1377delC); ClinVar=VCV000188548; Zygosity=Heterozygous (PubMed=34785479).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C133725; Familial hypertrophic cardiomyopathy type 4
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=34785479; DOI=10.1016/j.scr.2021.102594;
RA   Wang Y., Xiong W.-Y., Zhao S.-X., Li B., Chang A.C.-Y.;
RT   "Generation of two induced pluripotent stem cell lines, SHIPMi001-A
RT   from a patient with hypertrophic cardiomyopathy caused by MYBPC3 gene
RT   mutation and SHIPMi002-A from a healthy male individual.";
RL   Stem Cell Res. 57:102594-102594(2021).
//