ID   ICGi022-A-3
AC   CVCL_D0VN
SY   K7-MYBPC3-N515del-1
DR   BioSamples; SAMEA110674461
DR   hPSCreg; ICGi022-A-3
DR   Wikidata; Q123032657
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian; Siberian.
CC   Sequence variation: Mutation; HGNC; 7551; MYBPC3; Simple_edited; p.Asn515del (c.1543_1545delAAC); ClinVar=VCV000181070; Zygosity=Homozygous; Note=By CRISPR/Cas9 (hPSCreg=ICGi022-A-3).
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)
HI   CVCL_ZE02 ! ICGi022-A
SX   Female
AG   42Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
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