Cellosaurus cell line BCH-30 (CVCL

Cellosaurus BCH-30 (CVCL_UE98)

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Cell line name

BCH-30

Accession

CVCL_UE98

Resource Identification Initiative

To cite this cell line use: BCH-30 (RRID:CVCL_UE98)

Comments

Population: Caucasian; Spanish.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.

Sequence variations

Mutation; HGNC; HGNC:18173; ERAP1; Simple; p.Met349Val (c.1045A>G); ClinVar=VCV002688496; Zygosity=Homozygous; Note=Allele ERAP1*001/Hap10 (PubMed=28446606).
Mutation; HGNC; HGNC:18173; ERAP1; Simple; p.Lys528Arg (c.1583A>G); ClinVar=VCV002688359; Zygosity=Homozygous; Note=Allele ERAP1*001/Hap10 (PubMed=28446606).
Mutation; HGNC; HGNC:18173; ERAP1; Simple; p.Asp575Asn (c.1723G>A); ClinVar=VCV002688495; Zygosity=Homozygous; Note=Allele ERAP1*001/Hap10 (PubMed=28446606).
Mutation; HGNC; HGNC:18173; ERAP1; Simple; p.Arg725Gln (c.2174G>A); ClinVar=VCV002688505; Zygosity=Homozygous; Note=Allele ERAP1*001/Hap10 (PubMed=28446606).
Mutation; HGNC; HGNC:18173; ERAP1; Simple; p.Gln730Glu (c.2188C>G); ClinVar=VCV002688532; Zygosity=Homozygous; Note=Allele ERAP1*001/Hap10 (PubMed=28446606).

HLA typing

Source: PubMed=28446606

Class I
HLA-A	A*02:01
HLA-B	B*51:08,40:01
HLA-C	C*16:02,03

Disease

Behcet syndrome (NCIt: C34416)
Behcet disease (ORDO: Orphanet_117)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Sex of cell

Sex unspecified

Age at sampling

Age unspecified