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Cellosaurus GM25978 (CVCL_VJ21)

[Text version]
Cell line name GM25978
Accession CVCL_VJ21
Resource Identification Initiative To cite this cell line use: GM25978 (RRID:CVCL_VJ21)
Comments Population: Caucasian; Mennonite.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2340; CRADD; Simple; p.Gly128Arg (c.382G>C); ClinVar=VCV000030360; Zygosity=Homozygous (Coriell=GM25978).
Disease Mental retardation, autosomal recessive 34 (NCIt: C153179)
Autosomal recessive non-syndromic intellectual disability (ORDO: Orphanet_88616)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 14Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM25978
Encyclopedic resources Wikidata; Q93932205
Entry history
Entry creation07-Sep-2018
Last entry update19-Dec-2024
Version number10