ID   GM22208
AC   CVCL_BU27
DR   Coriell; GM22208
DR   Wikidata; Q54852427
CC   Sequence variation: Mutation; HGNC; HGNC:8653; PCCA; Simple; p.Lys298Arg (c.893A>G); ClinVar=VCV000449078; Zygosity=Heterozygous (Coriell=GM22208).
CC   Sequence variation: Mutation; HGNC; HGNC:8653; PCCA; Unexplicit; Ex13-20del; Zygosity=Heterozygous (Coriell=GM22208).
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   2Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
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