ID   GM22581
AC   CVCL_BU75
DR   Coriell; GM22581
DR   Wikidata; Q54852637
CC   Sequence variation: Mutation; HGNC; HGNC:8653; PCCA; Simple; p.His140fs (c.418delC); Zygosity=Heterozygous (Coriell=GM22581).
CC   Sequence variation: Mutation; HGNC; HGNC:8653; PCCA; Simple; p.Leu532del (c.1593_1595delATT); ClinVar=VCV000554477; Zygosity=Heterozygous (Coriell=GM22581).
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   9Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
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