ID   GM22124
AC   CVCL_BU09
DR   Coriell; GM22124
DR   Wikidata; Q54852362
CC   Population: Southeast Asian; Filipino.
CC   Sequence variation: Mutation; HGNC; HGNC:8654; PCCB; Simple; p.Arg113Ter (c.377C>T); ClinVar=VCV000265422; Zygosity=Heterozygous (from familial inference of GM22123).
CC   Sequence variation: Mutation; HGNC; HGNC:8654; PCCB; Simple; p.Phe391Ser (c.1172T>C); ClinVar=VCV001942487; Zygosity=Heterozygous (from familial inference of GM22123).
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   8Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 9
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