ID   GM23221
AC   CVCL_BV17
DR   Coriell; GM23221
DR   Wikidata; Q54852919
CC   Sequence variation: Mutation; HGNC; HGNC:8653; PCCA; Simple; p.Arg268Cys (c.802C>T) (R243C); ClinVar=VCV000289402; Zygosity=Heterozygous (Coriell=GM23221).
CC   Sequence variation: Mutation; HGNC; HGNC:8653; PCCA; Simple; p.Cys616_Val633del (c.1899+4_1899+7delAGTA) (1824IVS+3del4) (IVS21+3del4); Zygosity=Heterozygous (Coriell=GM23221).
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   2Y6M
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
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