Cellosaurus logo
expasy logo

Cellosaurus PV014 (CVCL_B4GQ)

[Text][XML][JSON]
Cell line name PV014
Accession CVCL_B4GQ
Resource Identification Initiative To cite this cell line use: PV014 (RRID:CVCL_B4GQ)
Comments Population: Caucasian.
Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
Genetic integration: Method=Transduction; Gene=UniProtKB; P03129; Human papillomavirus type 16 protein E7.
Transformant: NCBI_TaxID; 333760; Human papillomavirus type 16 (HPV16).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:23038; LMBRD1; Simple; p.Thr238Ter (c.712_713delAC) (T237X); Zygosity=Heterozygous (CelloPub=CLPUB00671).
  • Mutation; HGNC; HGNC:23038; LMBRD1; Simple; p.Asn353Ilefs*18 (c.1056delG) (L352fsX18); ClinVar=VCV000225048; Zygosity=Heterozygous (CelloPub=CLPUB00671).
Disease Methylmalonic aciduria and homocystinuria, cblF type (NCIt: C183525)
Methylmalonic acidemia with homocystinuria type cblF (ORDO: Orphanet_79284)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_B4F0 (WG3377)
Sex of cell Male
Age at sampling Children
Category Transformed cell line
Publications

CLPUB00671
Isabelle Racine Miousse;
Investigations into the early steps of cobalamin metabolism.
Thesis PhD (2011); McGill University Montreal; Montreal; Canada

Cross-references
Encyclopedic resources Wikidata; Q110433141
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number7