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Cellosaurus GM27934 (CVCL_A2TP)

[Text version]
Cell line name GM27934
Synonyms GM27934*B
Accession CVCL_A2TP
Resource Identification Initiative To cite this cell line use: GM27934 (RRID:CVCL_A2TP)
Comments Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:888; KIF1A; Simple; p.Glu253Lys (c.757G>A); ClinVar=VCV000162059; Zygosity=Heterozygous (Coriell=GM27934).
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)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM27934
Encyclopedic resources Wikidata; Q105507412
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6