ID   UKKi031-A
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).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C142892; Familial hypertrophic cardiomyopathy type 2
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens
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: 20-05-21; Version: 8