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Cellosaurus GM26184 (CVCL_A2WE)

[Text version]
Cell line name GM26184
Accession CVCL_A2WE
Resource Identification Initiative To cite this cell line use: GM26184 (RRID:CVCL_A2WE)
Comments Population: Caucasian.
Derived from site: In situ; Nose, cartilage; UBERON=UBERON_0001823.
Sequence variations
  • Mutation; HGNC; HGNC:12340; TRPS1; Simple; c.-9dupT; ClinVar=VCV000260329; Zygosity=Heterozygous (Coriell=GM26184).
  • Mutation; HGNC; HGNC:12340; TRPS1; Simple; p.Ser1067Argfs*3 (c.3198_3199delAT); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM26184).
Disease Trichorhinophalangeal syndrome type I (NCIt: C75109)
Trichorhinophalangeal syndrome type 1 and 3 (ORDO: Orphanet_77258)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 23Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM26184
Encyclopedic resources Wikidata; Q105507053
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6