ID   GM28573
AC   CVCL_D6Y0
DR   Coriell; GM28573
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=GM28573).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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   Female
AG   19Y
CA   Finite cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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