ID   ZZUNEUi025-A
AC   CVCL_B5EU
DR   hPSCreg; ZZUNEUi025-A
DR   Wikidata; Q110434451
RX   PubMed=35257994;
CC   From: The First Affiliated Hospital of Zhengzhou University; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:7551; MYBPC3; Simple; c.772+1G>A; ClinVar=VCV000042790; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=35257994).
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   52Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 14-08-25; Version: 7
//
RX   PubMed=35257994; DOI=10.1016/j.scr.2022.102722;
RA   Zhao, Xi
RA   Cao, Jin-Hua
RA   Li, Xiao-Wei
RA   Liu, Meng-Duan
RA   Liu, Yang-Yang
RA   Dong, Jian-Zeng
RA   Zhao, Xiao-Yan
RT   "A heterozygous MYBPC3 (c. 772+1G > A) mutant human induced
RT   pluripotent stem cell line (ZZUNEUi025-A) generated from a male
RT   patient with hypertrophic cardiomyopathy.";
RL   Stem Cell Res. 60:102722-102722(2022).
//