Cellosaurus cell line WC009i-FX08-01 (CVCL

Cross-references
Cell line name	WC009i-FX08-01
Synonyms	FX08-1
Accession	CVCL_EJ79
Resource Identification Initiative	To cite this cell line use: WC009i-FX08-01 (RRID:CVCL_EJ79)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[>435]; ClinVar=VCV000009972; Zygosity=Hemizygous (PubMed=24654675).
Disease	Fragile X syndrome (NCIt: C84717) Fragile X syndrome (ORDO: Orphanet_908)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	11Y
Category	Induced pluripotent stem cell
Publications	PubMed=24654675; DOI=10.1089/scd.2014.0030; PMCID=PMC4103262 Matthew E. Doers, Michael T. Musser, Robert Nichol, Erich R. Berndt, Mei Baker, Timothy M. Gomez, Su-Chun Zhang, Leonard Abbeduto, Anita Bhattacharyya; iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth. Stem Cells Dev. 23:1777-1787(2014)
Cell line collections (Providers)	WiCell; wc009i-fx08-01
Encyclopedic resources	Wikidata; Q54993619
Entry history
Entry creation	26-Sep-2016
Last entry update	19-Dec-2024
Version number	13