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Cellosaurus GM28575 (CVCL_C7LV)

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Cell line name GM28575
Synonyms GM28575*C
Accession CVCL_C7LV
Resource Identification Initiative To cite this cell line use: GM28575 (RRID:CVCL_C7LV)
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:3811; FOXG1; Simple; p.Gly169Glyfs*23 (c.507del); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28575).
  • Mutation; HGNC; HGNC:12601; USH2A; Simple; p.Arg303His (c.908G>A); ClinVar=VCV000284411; Zygosity=Heterozygous (Coriell=GM28575).
Disease Rett syndrome, congenital variant (NCIt: C176903)
Atypical Rett syndrome (ORDO: Orphanet_3095)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A2TS (GM27973)
Sex of cell Male
Age at sampling 8M
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM28575
Encyclopedic resources Wikidata; Q117704437
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number5