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Cellosaurus GM28399 (CVCL_C7MI)

[Text version]
Cell line name GM28399
Synonyms GM28399*B
Accession CVCL_C7MI
Resource Identification Initiative To cite this cell line use: GM28399 (RRID:CVCL_C7MI)
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:5959; ELP1; Simple; c.2204+6T>C (2507+6T>C) (IVS20+6T>C) (Ex20del); ClinVar=VCV000006085; Zygosity=Homozygous (Coriell=GM28399).
Disease Familial dysautonomia (NCIt: C84706)
Familial dysautonomia (ORDO: Orphanet_1764)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_AA43 (GM04959)
Sex of cell Female
Age at sampling 10Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM28399
Encyclopedic resources Wikidata; Q117704391
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4