ID   ZJUi011-A
AC   CVCL_C0IL
SY   LSYMYH7iPS; LSY-iPSC-C11; ZJULLi003-A
DR   BioSamples; SAMEA14429757
DR   hPSCreg; ZJUi011-A
DR   Wikidata; Q112930593
RX   PubMed=35944310;
CC   From: Zhejiang University School of Medicine; Hangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 7577; MYH7; Simple; p.Glu1462Lys (c.4384G>A); ClinVar=VCV000918880; Zygosity=Heterozygous (PubMed=35944310).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C172092; Familial hypertrophic cardiomyopathy type 1
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   47Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35944310; DOI=10.1016/j.scr.2022.102883;
RA   Zhou J.-J., Sun Y.-X., Wang H.-K., Wang H., Guo F.-F., Chen X.-Z.,
RA   Gong T.-Y., Jiang C.-Y., Liang P.;
RT   "Generation of an induced pluripotent stem cell line (ZJULLi003-A)
RT   from a hypertrophic cardiomyopathy patient carrying MYH7/c.4384G > A
RT   mutation.";
RL   Stem Cell Res. 64:102883-102883(2022).
//