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Cellosaurus GM20136 (CVCL_9R97)

[Text version]
Cell line name GM20136
Accession CVCL_9R97
Resource Identification Initiative To cite this cell line use: GM20136 (RRID:CVCL_9R97)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:29670; GNPTAB; Simple; p.Leu257Leu (c.771G>A) (G-A,EX7); ClinVar=VCV000002761; Zygosity=Homozygous; Note=Causes skipping of exon 7 (Coriell=GM20136).
Disease Mucolipidosis type IIIA (NCIt: C125595)
Mucolipidosis type III alpha/beta (ORDO: Orphanet_423461)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 47Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20136
Cell line databases/resources CLO; CLO_0027714
Encyclopedic resources Wikidata; Q54850814
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number14