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Cellosaurus GM27300 (CVCL_WP04)

[Text version]
Cell line name GM27300
Accession CVCL_WP04
Resource Identification Initiative To cite this cell line use: GM27300 (RRID:CVCL_WP04)
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 autologous cell line GM27325).
  • Mutation; HGNC; HGNC:3791; FOLR1; Simple; c.493+2T>C (IVS4+2T>C); ClinVar=VCV000095750; Zygosity=Heterozygous (from autologous cell line GM27325).
  • Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Gly224Ser (c.670G>A); ClinVar=VCV000167092; Zygosity=Heterozygous (Coriell=GM27300).
  • Mutation; HGNC; HGNC:4136; GAMT; Simple; p.Pro8Thr (c.22C>A); ClinVar=VCV000205598; Zygosity=Heterozygous (from autologous cell line GM27325).
Disease Rett syndrome, congenital variant (NCIt: C176903)
Atypical Rett syndrome (ORDO: Orphanet_3095)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_C7LX (GM28577)
Originate from same individual CVCL_YN13 ! GM27325
Sex of cell Female
Age at sampling 2Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27300
Encyclopedic resources Wikidata; Q93933158
Entry history
Entry creation05-Jul-2019
Last entry update19-Dec-2024
Version number12