ID   ZZUNEUi016-A
AC   CVCL_A4ZR
DR   hPSCreg; ZZUNEUi016-A
DR   Wikidata; Q107117584
RX   PubMed=33636496;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 7577; MYH7; Simple; p.Ala355Thr (c.1063G>A); ClinVar=VCV000042820; Zygosity=Heterozygous (PubMed=33636496).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=33636496
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D12S391: 16,18
ST   D13S317: 8,9
ST   D16S539: 10,12
ST   D18S51: 14,16
ST   D19S433: 13,14
ST   D21S11: 29,33.2
ST   D2S1338: 18
ST   D3S1358: 15,16
ST   D5S818: 10,12
ST   D6S1043: 18,19
ST   D7S820: 10
ST   D8S1179: 10,16
ST   FGA: 22,25
ST   Penta E: 13,20
ST   Penta D: 9,11
ST   TH01: 9
ST   TPOX: 8,11
ST   vWA: 14,16
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   Female
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33636496; DOI=10.1016/j.scr.2021.102262;
RA   Guo G.-L., Fu W.-R., Li X.-W., Dong J.-Z., Zhao X.-Y., Zhang Y.-Z.;
RT   "Generation of an iPSC line (ZZUNEUi016-A) derived from a hypertrophic
RT   cardiomyopathy patient with the heterozygote mutation in MYH7 gene.";
RL   Stem Cell Res. 53:102262-102262(2021).
//