Cellosaurus logo
expasy logo

Cellosaurus GM28249 (CVCL_B0IF)

[Text][XML][JSON]
Cell line name GM28249
Synonyms GM28249*B
Accession CVCL_B0IF
Resource Identification Initiative To cite this cell line use: GM28249 (RRID:CVCL_B0IF)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:756; ASPA; Simple; p.Gly176Asp (c.527C>A); Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:756; ASPA; Simple; p.Ala305Glu (c.914C>A); ClinVar=VCV000002607; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Arg249Trp (c.745C>T); ClinVar=VCV000126510; Zygosity=Homozygous (from parent cell line).
Disease Canavan disease (NCIt: C84611)
Canavan disease (ORDO: Orphanet_141)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_0P14 (GM00059)
Sex of cell Female
Age at sampling 1Y5M
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM28249
Encyclopedic resources Wikidata; Q108820320
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number6