ID   TAUi001-A-1
DR   BioSamples; SAMEA6880675
DR   hPSCreg; TAUi001-A-1
DR   Wikidata; Q98133171
CC   From: University of Tampere; Tampere; Finland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 14202; JPH2; Simple_corrected; p.Thr161Lys (c.482C>A); Zygosity=Heterozygous (hPSCreg).
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C172093; Familial hypertrophic cardiomyopathy type 17
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens
HI   CVCL_ZA77 ! TAUi001-A
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 17-03-22; Version: 5