ID   ID00002
AC   CVCL_2Z02
DR   CLO; CLO_0029275
DR   Coriell; ID00002
DR   Wikidata; Q54897240
CC   Part of: US Immunodeficiency Network (USIDNET) cell repository.
CC   Sequence variation: Mutation; HGNC; HGNC:11935; CD40LG; Simple; p.Leu155Pro (c.464T>C); ClinVar=VCV000011160; Zygosity=Hemizygous (Coriell=ID00002).
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   7Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 13
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