ID   GM17547
AC   CVCL_Y317
DR   CLO; CLO_0013019
DR   Coriell; GM17547
DR   Wikidata; Q54848966
CC   Sequence variation: Mutation; HGNC; HGNC:1133; BTK; Simple; p.Cys506Arg (c.1516T>C); ClinVar=VCV000011376; Zygosity=Hemizygous (Coriell=GM17547).
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   14Y
CA   Transformed cell line
DT   Created: 07-11-14; Last updated: 19-12-24; Version: 13
//