Cellosaurus logo
expasy logo

Cellosaurus CG0020 (CVCL_LG38)

[Text version]
Cell line name CG0020
Synonyms CG20
Accession CVCL_LG38
Resource Identification Initiative To cite this cell line use: CG0020 (RRID:CVCL_LG38)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9689; PTS; Simple; p.Asn52Ser (c.155A>G); ClinVar=VCV000000479; Zygosity=Heterozygous (BCRC=60457).
  • Mutation; HGNC; HGNC:9689; PTS; Simple; p.Pro87Ser (c.259C>T); ClinVar=VCV000000480; Zygosity=Heterozygous (BCRC=60457).
Disease Hyperphenylalaninemia, BH4-deficient A (NCIt: C138171)
6-pyruvoyl-tetrahydropterin synthase deficiency (ORDO: Orphanet_13)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 7Y
Category Finite cell line
Cross-references
Cell line collections (Providers) BCRC; 60457
Encyclopedic resources Wikidata; Q54811472
Entry history
Entry creation15-Nov-2017
Last entry update19-Dec-2024
Version number13