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Cellosaurus GM29122 (CVCL_D3AL)

[Text version]
Cell line name GM29122
Accession CVCL_D3AL
Resource Identification Initiative To cite this cell line use: GM29122 (RRID:CVCL_D3AL)
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:11111; SMC1A; Simple; p.Ile1185Glyfs*23 (c.3549_3552dupGGCC); ClinVar=VCV000208627; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM29122).
Disease Developmental and epileptic encephalopathy 85 with or without midline brain defects (NCIt: C202548)
Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 12Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM29122
Encyclopedic resources Wikidata; Q127380954
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3