ID   ID00085
AC   CVCL_2Z35
DR   Coriell; ID00085
DR   Wikidata; Q54897291
CC   Part of: US Immunodeficiency Network (USIDNET) cell repository.
CC   Sequence variation: Mutation; HGNC; HGNC:6010; IL2RG; Simple; p.Val187Gly (c.574T>G); Zygosity=Hemizygous (Coriell=ID00085).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C4682; X-linked severe combined immunodeficiency
DI   ORDO; Orphanet_276; T-B+ severe combined immunodeficiency due to gamma chain deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 12
//