ID   GM23505
AC   CVCL_1L24
DR   Coriell; GM23505
DR   Wikidata; Q54853127
CC   Sequence variation: Mutation; HGNC; HGNC:9726; PYGM; Simple; p.Arg50Ter (c.148C>T); ClinVar=VCV000002298; Zygosity=Homozygous (Coriell=GM23505).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84738; Glycogen storage disease type V
DI   ORDO; Orphanet_368; Glycogen storage disease due to muscle glycogen phosphorylase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Children
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 15
//