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Cellosaurus GM27978 (CVCL_A5MR)

[Text version]
Cell line name GM27978
Synonyms GM27978*B
Accession CVCL_A5MR
Resource Identification Initiative To cite this cell line use: GM27978 (RRID:CVCL_A5MR)
Comments Population: Caucasian and Native North American; Alaskan.
Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:20311; CHAMP1; Simple; p.Ser181Cysfs*5 (c.542_543delCT); ClinVar=VCV000217909; Zygosity=Heterozygous (Coriell=GM27978).
Disease Mental retardation, autosomal dominant 40 (NCIt: C163754)
Autosomal dominant non-syndromic intellectual disability (ORDO: Orphanet_178469)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_XC44 (GM27408)
Sex of cell Male
Age at sampling 4Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM27978
Encyclopedic resources Wikidata; Q107115193
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number7