ID   ID00001
AC   CVCL_2Z01
DR   CLO; CLO_0029274
DR   Coriell; ID00001
DR   Wikidata; Q54897239
CC   Part of: US Immunodeficiency Network (USIDNET) cell repository.
CC   Sequence variation: Mutation; HGNC; HGNC:1133; BTK; Simple; p.Tyr361Cys (c.1082A>G); ClinVar=VCV000011346; Zygosity=Hemizygous (Coriell=ID00001).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3822; X-linked agammaglobulinemia
DI   ORDO; Orphanet_47; X-linked agammaglobulinemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   12Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 13
//