Cellosaurus cell line ST-EMO (CVCL

Cellosaurus ST-EMO (CVCL_DP21)

Cross-references
Cell line name	ST-EMO
Accession	CVCL_DP21
Resource Identification Initiative	To cite this cell line use: ST-EMO (RRID:CVCL_DP21)
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:44; TAP2; Simple; p.Arg273Ter (c.817C>T) (R253*); ClinVar=VCV000013727; Zygosity=Homozygous (PubMed=7517574).
Disease	Bare lymphocyte syndrome type 1 (NCIt: C171267) Immunodeficiency by defective expression of MHC class I (ORDO: Orphanet_34592)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_A5NE ! STF-1
Sex of cell	Male
Age at sampling	6Y
Category	Transformed cell line
Publications	PubMed=7517574; DOI=10.1126/science.7517574 Henri de la Salle, Daniel Hanau, Dominique Fricker, Arlette Urlacher, Adrian P. Kelly, Jean Salamero, Stephen Huw Powis, Lionel Donato, Huguette Bausinger, Michel Laforet, Matjaz Jeras ...Show all 17 authors... , Daniele Spehner, Thomas Bieber, Annie Falkenrodt, Jean-Pierre Cazenave, John Trowsdale, Marie-Marthe Tongio; Show fewer authors Homozygous human TAP peptide transporter mutation in HLA class I deficiency. Science 265:237-241(1994) PubMed=10074495; DOI=10.1172/JCI5687; PMCID=PMC408129 Henri de la Salle, Jacques Zimmer, Dominique Fricker, Catherine Angenieux, Jean-Pierre Cazenave, Mitsuo Okubo, Hiroo Maeda, Alessandro Plebani, Marie-Marthe Tongio, Anne Dormoy, Daniel Hanau; HLA class I deficiencies due to mutations in subunit 1 of the peptide transporter TAP1. J. Clin. Invest. 103:R9-R13(1999)
Encyclopedic resources	Wikidata; Q54955737
Entry history
Entry creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	10