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Cellosaurus GM28350 (CVCL_C0LQ)

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Cell line name GM28350
Accession CVCL_C0LQ
Resource Identification Initiative To cite this cell line use: GM28350 (RRID:CVCL_C0LQ)
Comments Population: Latino or Hispanic.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:17300; TAF8; Simple; p.Thr240Argfs*7 (c.719_720delAC); ClinVar=VCV001686246; Zygosity=Heterozygous (Coriell=GM28350).
  • Mutation; HGNC; HGNC:17300; TAF8; Simple; p.Asn269Thrfs*29 (c.806_809delACAC); ClinVar=VCV001686247; Zygosity=Heterozygous (Coriell=GM28350).
Disease Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy (NCIt: C192636)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28350
Encyclopedic resources Wikidata; Q112929602
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number7