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Cellosaurus GM27937 (CVCL_A5MP)

[Text version]
Cell line name GM27937
Synonyms GM27937*B
Accession CVCL_A5MP
Resource Identification Initiative To cite this cell line use: GM27937 (RRID:CVCL_A5MP)
Comments Population: Caucasian.
Characteristics: The donor is mosaic for the disease causing KIF1A mutation, this cell line originate from a diseased cell.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:888; KIF1A; Simple; p.Arg203Ser (c.609G>T); Zygosity=Mosaic (Coriell=GM27937).
Disease Mental retardation, autosomal dominant 9 (NCIt: C133742)
Autosomal dominant non-syndromic intellectual disability (ORDO: Orphanet_178469)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A5MQ ! GM27938
Sex of cell Female
Age at sampling 18Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM27937
Encyclopedic resources Wikidata; Q107115190
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number6