Cellosaurus cell line RTT-1155del32 C18 (CVCL

Cellosaurus RTT-1155del32 C18 (CVCL_YL32)

Cross-references
Cell line name	RTT-1155del32 C18
Synonyms	iPSC-RTT clone 18
Accession	CVCL_YL32
Resource Identification Initiative	To cite this cell line use: RTT-1155del32 C18 (RRID:CVCL_YL32)
Comments	Population: Jewish. Omics: Transcriptomics; Microarray. 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.Leu386Argfs8 (c.1157_1188del32) (p.Leu398Argfs8, c.1193_1224del32) (1155del32); ClinVar=VCV000143366; Zygosity=Unspecified (PubMed=21074045).
Disease	Rett syndrome (NCIt: C75488) Rett syndrome (ORDO: Orphanet_778)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_4F14 (GM11272)
Sex of cell	Female
Age at sampling	3Y
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; Q98129210
Gene expression databases	GEO; GSM525412 GEO; GSM525413 GEO; GSM525414
Entry history
Entry creation	12-Mar-2020
Last entry update	10-Apr-2025
Version number	10