ID   ZJUi012-A
AC   CVCL_C0IM
SY   ZYLMYBPC3iPS; ZYL-iPSC-C2; ZJULLi004-A
DR   BioSamples; SAMEA14430505
DR   hPSCreg; ZJUi012-A
DR   Wikidata; Q112930594
RX   PubMed=36041398;
CC   From: Zhejiang University School of Medicine; Hangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 7551; MYBPC3; Simple; p.Ala1255Asp (c.3764C>A); ClinVar=VCV000179227; Zygosity=Heterozygous (PubMed=36041398).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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   60Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 5
//
RX   PubMed=36041398; DOI=10.1016/j.scr.2022.102898;
RA   Sun Y.-X., Zhou J.-J., Wang H.-K., Wang H., Chen X.-Z., Gong T.-Y.,
RA   Liang P., Jiang C.-Y.;
RT   "Establishment of an induced pluripotent stem cell line (ZJULLi004-A)
RT   from a hypertrophic cardiomyopathy patient carrying MYBPC3/c.3764C>A
RT   mutation.";
RL   Stem Cell Res. 64:102898-102898(2022).
//