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Cellosaurus GM27408 (CVCL_XC44)

[Text version]
Cell line name GM27408
Accession CVCL_XC44
Resource Identification Initiative To cite this cell line use: GM27408 (RRID:CVCL_XC44)
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=GM27408).
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 Children:
CVCL_A5MR (GM27978)
Originate from same individual CVCL_XC45 ! GM27458
Sex of cell Male
Age at sampling 4Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27408
Encyclopedic resources Wikidata; Q93933222
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number10