Cellosaurus cell line WIC04i-127-33 (CVCL

Cellosaurus WIC04i-127-33 (CVCL_EJ72)

Cross-references
Cell line name	WIC04i-127-33
Synonyms	iPS-R306C-WT
Accession	CVCL_EJ72
Resource Identification Initiative	To cite this cell line use: WIC04i-127-33 (RRID:CVCL_EJ72)
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=Hemizygous (from parent cell line).
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) PubMed=21966470; DOI=10.1371/journal.pone.0025255; PMCID=PMC3180386 Gene E. Ananiev, Emily Cunningham Williams, Hong-Da Li, Qiang Chang; Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model. PLoS ONE 6:e25255.1-e25255.10(2011)
Cell line collections (Providers)	WiCell; wic04i-127-33
Encyclopedic resources	Wikidata; Q54994049
Entry history
Entry creation	26-Sep-2016
Last entry update	19-Dec-2024
Version number	12