ID   UKKi035-B
AC   CVCL_VF43
SY   NP0139-B; NP0139-6C
DR   BioSamples; SAMEA104615860
DR   EBiSC; UKKi035-B
DR   ECACC; 66540896
DR   hPSCreg; UKKi035-B
DR   Wikidata; Q54990542
CC   From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
CC   Sequence variation: Mutation; HGNC; HGNC:7551; MYBPC3; Simple; p.Arg943Ter (c.2827C>T); ClinVar=VCV000037039; Zygosity=Heterozygous (hPSCreg=UKKi035-B).
CC   Discontinued: ECACC; 66540896; true.
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)
OI   CVCL_VF42 ! UKKi035-A
OI   CVCL_VF44 ! UKKi035-C
SX   Male
AG   65-69Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 12
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