ID   GM22555
AC   CVCL_BU65
DR   Coriell; GM22555
DR   Wikidata; Q54852616
CC   Sequence variation: Mutation; HGNC; HGNC:8654; PCCB; Simple; c.1209+2delT; Zygosity=Heterozygous (Coriell=GM22555).
CC   Sequence variation: Mutation; HGNC; HGNC:8654; PCCB; Simple; p.Asn536Asp (c.1606A>G); ClinVar=VCV000038881; Zygosity=Heterozygous (Coriell=GM22555).
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   Female
AG   5M
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
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