ID   GM22366
AC   CVCL_BU46
DR   Coriell; GM22366
DR   Wikidata; Q54852543
CC   Sequence variation: Mutation; HGNC; HGNC:8653; PCCA; Simple; p.Glu248Lys (c.742G>A) (E233K); ClinVar=VCV000418400; Zygosity=Heterozygous (Coriell=GM22366).
CC   Sequence variation: Mutation; HGNC; HGNC:8653; PCCA; Simple; p.Gly477Val (c.1430G>T) (G452V); ClinVar=VCV000550273; Zygosity=Heterozygous (Coriell=GM22366).
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   11M
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
//