Cellosaurus cell line RTT-Q244X C3 (CVCL

Cross-references
Cell line name	RTT-Q244X C3
Accession	CVCL_YL33
Resource Identification Initiative	To cite this cell line use: RTT-Q244X C3 (RRID:CVCL_YL33)
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); ClinVar=VCV000095200; Zygosity=Heterozygous (PubMed=21074045).
Disease	Rett syndrome (NCIt: C75488) Rett syndrome (ORDO: Orphanet_778)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_4F42 (GM16548)
Sex of cell	Female
Age at sampling	5Y
Category	Induced pluripotent stem cell
Publications	PubMed=21074045; DOI=10.1016/j.cell.2010.10.016; PMCID=PMC3003590 Marchetto M.C.N., Carromeu C., Acab A., Yu D.X., Yeo G.W., Mu Y.-L., Chen G., Gage F.H., Muotri A.R. A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells. Cell 143:527-539(2010) Patent=US9696297 Marchetto M.C.N., Gage F.H., Muotri A.R. Method for preparing an X chromosome inactivated female human neural cell. Patent number US9696297, 04-Jul-2017
Encyclopedic resources	Wikidata; Q98129211
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	8