ID   HPIi011-A
AC   CVCL_D6KK
SY   MYH7-18681-R1A
DR   BioSamples; SAMEA115133466
DR   hPSCreg; HPIi011-A
DR   Wikidata; Q127381786
CC   From: Harry Perkins Institute of Medical Research, University of Western Australia; Nedlands; Australia.
CC   Population: Afghanistan; Persian.
CC   Sequence variation: Mutation; HGNC; HGNC:7577; MYH7; Simple; p.Lys1617del (c.4850_4852delAGA) (c.4844AGA[2]); ClinVar=VCV000190401; Zygosity=Heterozygous (hPSCreg=HPIi011-A).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C206090; Autosomal dominant myosin storage congenital myopathy 7A
DI   ORDO; Orphanet_53698; Myosin storage myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   20-24Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
//