ID   UKKi025-B
AC   CVCL_LD43
SY   NP0135-2
DR   BioSamples; SAMEA17638168
DR   EBiSC; UKKi025-B
DR   ECACC; 66540492
DR   hPSCreg; UKKi025-B
DR   Wikidata; Q54990491
CC   From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7577; MYH7; Simple; p.Arg719Gly (c.2156G>A); Zygosity=Heterozygous (EBiSC=UKKi025-B).
CC   Discontinued: ECACC; 66540492; true.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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)
OI   CVCL_LD42 ! UKKi025-A
OI   CVCL_LD44 ! UKKi025-C
SX   Female
AG   40-44Y
CA   Induced pluripotent stem cell
DT   Created: 22-08-17; Last updated: 19-12-24; Version: 13
//