ID   PAS [Human LCL]
AC   CVCL_B7MA
DR   Wikidata; Q114312647
RX   PubMed=10079298;
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; HGNC:9986; RFX5; Simple; p.Gln51Metfs*32 (c.151_154delCAAG); Zygosity=Heterozygous (PubMed=10079298).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Adult
CA   Transformed cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=10079298; DOI=10.1007/s002510050501;
RA   Peijnenburg A., van Eggermond M.C.J.A., van den Berg R., Sanal O.,
RA   Vossen J.M.J.J., van den Elsen P.J.;
RT   "Molecular analysis of an MHC class II deficiency patient reveals a
RT   novel mutation in the RFX5 gene.";
RL   Immunogenetics 49:338-345(1999).
//