ID   ID00017
AC   CVCL_6G82
DR   CLO; CLO_0029232
DR   Coriell; ID00017
DR   Wikidata; Q54897250
CC   Part of: US Immunodeficiency Network (USIDNET) cell repository.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; p.Arg156His (c.467G>A); ClinVar=VCV000001984; Zygosity=Heterozygous (Coriell=ID00017).
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; p.Gly216Arg (c.646G>A); ClinVar=VCV000001968; Zygosity=Heterozygous (Coriell=ID00017).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3962; Adenosine deaminase deficiency
DI   ORDO; Orphanet_277; Severe combined immunodeficiency due to adenosine deaminase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   32Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 30-01-24; Version: 14
//