ID   GM22010
AC   CVCL_BT63
DR   Coriell; GM22010
DR   Wikidata; Q54852281
CC   Sequence variation: Mutation; HGNC; HGNC:8653; PCCA; Simple; p.Gly241Valfs*19 (c.722delG) (G216fs); ClinVar=VCV000551231; Zygosity=Homozygous (Coriell=GM22010).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85030; Propionic acidemia
DI   ORDO; Orphanet_35; Propionic acidemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   7Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 11
//