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Cellosaurus GM28610 (CVCL_C7P2)

[Text version]
Cell line name GM28610
Accession CVCL_C7P2
Resource Identification Initiative To cite this cell line use: GM28610 (RRID:CVCL_C7P2)
Comments Population: Caucasian; Polish.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:23794; PACS2; Simple; p.Glu209Lys (c.625G>A); ClinVar=VCV000495141; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28610).
Disease Developmental and epileptic encephalopathy 66 (NCIt: C198576)
Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C7P6 ! GM28627
Sex of cell Female
Age at sampling 7M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28610
Encyclopedic resources Wikidata; Q117704443
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4