ID   GM22030
AC   CVCL_BT79
DR   Coriell; GM22030
DR   Wikidata; Q54852308
CC   Sequence variation: Mutation; HGNC; HGNC:8654; PCCB; Simple; p.Phe391Cysfs*2 (c.1172_1173delTT); ClinVar=VCV000659170; Zygosity=Homozygous (Coriell=GM22030).
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   5Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 10
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