ID   GM27290
AC   CVCL_YN39
DR   Coriell; GM27290
DR   Wikidata; Q93933151
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:23089; SLC13A5; Simple; p.Leu492Pro (c.1475T>C); ClinVar=VCV000375390; Zygosity=Heterozygous (Coriell=GM27290).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   38Y
CA   Transformed cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 9
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