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Cellosaurus RTT-1155del32 C18 (CVCL_YL32)

[Text version]
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: Transcriptome analysis by 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.Leu386Argfs*8 (c.1157_1188del32) (p.Leu398Argfs*8, 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
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

Cross-references
Encyclopedic resources Wikidata; Q98129210
Gene expression databases GEO; GSM525412
GEO; GSM525413
GEO; GSM525414
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9