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Cellosaurus GM27860 (CVCL_ZH98)

[Text version]
Cell line name GM27860
Synonyms GM27860*B
Accession CVCL_ZH98
Resource Identification Initiative To cite this cell line use: GM27860 (RRID:CVCL_ZH98)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:20311; CHAMP1; Simple; p.Arg497Ter (c.1489C>T); ClinVar=VCV000210050; Zygosity=Heterozygous (Coriell=GM27860).
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_XC49 (GM27353)
Sex of cell Male
Age at sampling 1Y11M
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM27860
Encyclopedic resources Wikidata; Q98126632
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number9