Cellosaurus cell line RTT-R306C C1 (CVCL

Cross-references
Cell line name	RTT-R306C C1
Accession	CVCL_YL44
Resource Identification Initiative	To cite this cell line use: RTT-R306C C1 (RRID:CVCL_YL44)
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:6990; MECP2; Simple; p.Arg306Cys (c.916C>T) (p.Arg318Cys, c.952C>T); ClinVar=VCV000011824; 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_F181 (GM11270)
Sex of cell	Female
Age at sampling	8Y
Category	Induced pluripotent stem cell
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) Patent=US9696297 Maria Carolina N. Marchetto, Fred Harrison Gage, Alysson Renato Muotri; Method for preparing an X chromosome inactivated female human neural cell. Patent number US9696297, 04-Jul-2017
Encyclopedic resources	Wikidata; Q98129213
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	9