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Cellosaurus GM28577 (CVCL_C7LX)

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Cell line name GM28577
Synonyms GM28577*C
Accession CVCL_C7LX
Resource Identification Initiative To cite this cell line use: GM28577 (RRID:CVCL_C7LX)
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:13830; CNTNAP2; Simple; p.Ser269Asn (c.806G>A); ClinVar=VCV000373714; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:3791; FOLR1; Simple; c.493+2T>C (IVS4+2T>C); ClinVar=VCV000095750; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Gly224Ser (c.670G>A); ClinVar=VCV000167092; Zygosity=Heterozygous (Coriell=GM28577).
  • Mutation; HGNC; HGNC:4136; GAMT; Simple; p.Pro8Thr (c.22C>A); ClinVar=VCV000205598; Zygosity=Heterozygous (from parent cell line).
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_WP04 (GM27300)
Sex of cell Female
Age at sampling 2Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM28577
Encyclopedic resources Wikidata; Q117704439
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4