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Cellosaurus PAS [Human LCL] (CVCL_B7MA)

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Cell line name PAS [Human LCL]
Accession CVCL_B7MA
Resource Identification Initiative To cite this cell line use: PAS [Human LCL] (RRID:CVCL_B7MA)
Comments Population: Turkish.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9986; RFX5; Simple; p.Gln51Metfs*32 (c.151_154delCAAG); Zygosity=Heterozygous (PubMed=10079298).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Adult
Category Transformed cell line
Publications

PubMed=10079298; DOI=10.1007/s002510050501
Ad Peijnenburg, Marja C.J.A. van Eggermond, Rian van den Berg, Ozden Sanal, Jaak M.J.J. Vossen, Peter J. van den Elsen;
Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene.
Immunogenetics 49:338-345(1999)

Cross-references
Encyclopedic resources Wikidata; Q114312647
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5