ID   ID00050
AC   CVCL_2Z24
DR   CLO; CLO_0029182
DR   Coriell; ID00050
DR   Wikidata; Q54897273
CC   Part of: US Immunodeficiency Network (USIDNET) cell repository.
CC   Sequence variation: Mutation; HGNC; 10820; SH2D1A; Simple; p.Arg55Ter (c.163C>T); ClinVar=VCV000010898; Zygosity=Hemizygous (Coriell=ID00050).
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   21Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 30-01-24; Version: 13
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