ID   UKKi025-C
AC   CVCL_LD44
SY   NP0135-7
DR   BioSamples; SAMEA17638918
DR   EBiSC; UKKi025-C
DR   ECACC; 66540493
DR   hPSCreg; UKKi025-C
DR   Wikidata; Q54990493
CC   From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7577; MYH7; Simple; p.Arg719Gly (c.2156G>A); Zygosity=Heterozygous (EBiSC=UKKi025-C).
CC   Discontinued: ECACC; 66540493; 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_LD43 ! UKKi025-B
SX   Female
AG   40-44Y
CA   Induced pluripotent stem cell
DT   Created: 22-08-17; Last updated: 30-01-24; Version: 12
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