ID   ID00051
AC   CVCL_2Z25
DR   CLO; CLO_0029167
DR   Coriell; ID00051
DR   Wikidata; Q54897274
CC   Part of: US Immunodeficiency Network (USIDNET) cell repository.
CC   Sequence variation: Mutation; HGNC; HGNC:10820; SH2D1A; Simple; c.577G>A; Zygosity=Hemizygous (Coriell=ID00051).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C170434; X-linked lymphoproliferative syndrome 1
DI   ORDO; Orphanet_538931; X-linked lymphoproliferative disease due to SH2D1A deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   9Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 12
//