ID   GM28975
AC   CVCL_D6Z7
SY   GM28975*B
DR   Coriell; GM28975
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:20093; ADSS1; Simple; p.Asp261Asn (c.781G>A) (p.Asp304Asn, c.910G>A); ClinVar=VCV000243025; Zygosity=Homozygous (Coriell=GM28975).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C206521; Distal myopathy-5
DI   ORDO; Orphanet_482601; Adenylosuccinate synthetase-like 1-related distal myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
//