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Cellosaurus GM28967 (CVCL_D2ZN)

[Text version]
Cell line name GM28967
Synonyms GM28967*B
Accession CVCL_D2ZN
Resource Identification Initiative To cite this cell line use: GM28967 (RRID:CVCL_D2ZN)
Comments Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:888; KIF1A; Simple_corrected; p.Pro305Leu (c.914C>T); ClinVar=VCV000428604; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (Coriell=GM28967).
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)
Hierarchy Parent: CVCL_A2TN (GM27933)
Sex of cell Female
Age at sampling 5Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM28967
Encyclopedic resources Wikidata; Q127380945
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3