ID   SaM fibroblast
AC   CVCL_B7LX
DR   Wikidata; Q114312951
RX   PubMed=11466404;
CC   Population: Caucasian; Greek.
CC   Sequence variation: Mutation; HGNC; HGNC:7067; CIITA; Simple; p.Leu469Pro (c.1406T>C) (T1524C); Zygosity=Homozygous (from autologous cell line SaM LCL).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C171268; Bare lymphocyte syndrome type 2
DI   ORDO; Orphanet_572; Immunodeficiency by defective expression of MHC class II
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_B7LY ! SaM LCL
SX   Female
AG   12Y
CA   Transformed cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=11466404; DOI=10.4049/jimmunol.167.3.1787;
RA   Wiszniewski W., Fondaneche M.-C., Le Deist F., Kanariou M., Selz F.,
RA   Brousse N., Steimle V., Barbieri G., Alcaide-Loridan C., Charron D.,
RA   Fischer A., Lisowska-Grospierre B.;
RT   "Mutation in the class II trans-activator leading to a mild
RT   immunodeficiency.";
RL   J. Immunol. 167:1787-1794(2001).
//