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Cellosaurus GM16548 (CVCL_4F42)

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Cell line name GM16548
Accession CVCL_4F42
Resource Identification Initiative To cite this cell line use: GM16548 (RRID:CVCL_4F42)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Gln244Ter (c.730C>T) (p.Gln256Ter, c.766C>T); ClinVar=VCV000095200; Zygosity=Heterozygous (Coriell=GM16548).
Disease Rett syndrome (NCIt: C75488)
Rett syndrome (ORDO: Orphanet_778)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_YL33 (RTT-Q244X C3)CVCL_YL42 (RTT-Q244X C4)
Originate from same individual CVCL_4F41 ! GM16547
Sex of cell Female
Age at sampling 5Y
Category Finite cell line
Publications

PubMed=21074045; DOI=10.1016/j.cell.2010.10.016; PMCID=PMC3003590
Maria Carolina N. Marchetto, Cassiano Carromeu, Allan Acab, Diana X. Yu, Gene W. Yeo, Yang-Ling Mu, Gong Chen, Fred Harrison Gage, Alysson Renato Muotri;
A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells.
Cell 143:527-539(2010)

Cross-references
Cell line collections (Providers) Coriell; GM16548
Cell line databases/resources CLO; CLO_0017557
Encyclopedic resources Wikidata; Q54848634
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number13