ID   UKKi031-A
AC   CVCL_RM74
SY   NP0138-8B
DR   BioSamples; SAMEA104494413
DR   EBiSC; UKKi031-A
DR   ECACC; 66540878
DR   hPSCreg; UKKi031-A
DR   Wikidata; Q54990511
CC   From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
CC   Sequence variation: Mutation; HGNC; 11949; TNNT2; Simple; p.Arg94Leu (c.281G>T); ClinVar=VCV000043629; Zygosity=Heterozygous (EBiSC=UKKi031-A).
CC   Discontinued: ECACC; 66540878; true.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C142892; Familial hypertrophic cardiomyopathy type 2
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RM75 ! UKKi031-B
OI   CVCL_RM76 ! UKKi031-C
SX   Female
AG   55-59Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 30-01-24; Version: 11
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