ID   ID00063
AC   CVCL_2Z27
DR   Coriell; ID00063
DR   Wikidata; Q54897283
CC   Part of: US Immunodeficiency Network (USIDNET) cell repository.
CC   Sequence variation: Mutation; HGNC; HGNC:11935; CD40LG; Simple; p.Ala187Leufs*4 (c.559delG) (580delG); ClinVar=VCV000521393; Zygosity=Hemizygous (Coriell=ID00063).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84783; Immunodeficiency with hyper-IgM
DI   ORDO; Orphanet_101088; X-linked hyper-IgM syndrome
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: 14
//