Cellosaurus logo
expasy logo

Cellosaurus ZM LCL (CVCL_B7LH)

[Text][XML][JSON]
Cell line name ZM LCL
Accession CVCL_B7LH
Resource Identification Initiative To cite this cell line use: ZM LCL (RRID:CVCL_B7LH)
Comments Population: Moroccan.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9988; RFXAP; Simple; p.Ser123Thrfs*15 (c.368delG) (484delG); ClinVar=VCV000007651; Zygosity=Homozygous (PubMed=9287230).
Disease Bare lymphocyte syndrome type 2 (NCIt: C171268)
Immunodeficiency by defective expression of MHC class II (ORDO: Orphanet_572)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_B7LG ! ZM fibroblast
Age at sampling Children
Category Transformed cell line
Publications

PubMed=9287230; DOI=10.1056/NEJM199709113371104
Jean Villard, Barbara Lisowska-Grospierre, Peter J. van den Elsen, Alain Fischer, Walter Reith, Bernard Mach;
Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency.
N. Engl. J. Med. 337:748-753(1997)

PubMed=9536093; DOI=10.1093/hmg/7.5.879
Marie-Claude Fondaneche, Jean Villard, Wojciech Wiszniewski, Emmanuelle Jouanguy, Amos Etzioni, Francoise Le Deist, Ad Peijnenburg, Jean-Laurent Casanova, Walter Reith, Bernard Mach, Alain Fischer, Barbara Lisowska-Grospierre;
Genetic and molecular definition of complementation group D in MHC class II deficiency.
Hum. Mol. Genet. 7:879-885(1998)

Cross-references
Encyclopedic resources Wikidata; Q112930596
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6