Cellosaurus cell line HEL70.3 (CVCL

Cellosaurus HEL70.3 (CVCL_VT46)

Cross-references
Cell line name	HEL70.3
Accession	CVCL_VT46
Resource Identification Initiative	To cite this cell line use: HEL70.3 (RRID:CVCL_VT46)
Comments	From: University of Helsinki; Helsinki; Finland. Derived from site: In situ; Foreskin, skin; UBERON=UBERON_0001471. Cell type: Fibroblast of foreskin; CL=CL_1001608.
Sequence variations	Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[>200]; ClinVar=VCV000009972; Zygosity=Hemizygous (PubMed=27411166).
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	Children
Category	Induced pluripotent stem cell
Publications	PubMed=27411166; DOI=10.1002/dneu.22419 Achuta V.S., Grym H., Putkonen N., Louhivuori V., Karkkainen V., Koistinaho J., Roybon L., Castren M.L. Metabotropic glutamate receptor 5 responses dictate differentiation of neural progenitors to NMDA-responsive cells in fragile X syndrome. Dev. Neurobiol. 77:438-453(2017) PubMed=29339535; DOI=10.1126/scisignal.aan8784 Achuta V.S., Moykkynen T., Peteri U.-K., Turconi G., Rivera C., Keinanen K.P., Castren M.L. Functional changes of AMPA responses in human induced pluripotent stem cell-derived neural progenitors in fragile X syndrome. Sci. Signal. 11:eaan8784.1-eaan8784.11(2018) PubMed=30503263; DOI=10.1016/j.stemcr.2018.11.003; PMCID=PMC6294261 Danesi C., Achuta V.S., Corcoran P., Peteri U.-K., Turconi G., Matsui N., Albayrak I., Rezov V., Isaksson A., Castren M.L. Increased calcium influx through L-type calcium channels in human and mouse neural progenitors lacking fragile X mental retardation protein. Stem Cell Reports 11:1449-1461(2018)
Encyclopedic resources	Wikidata; Q94096144
Entry history
Entry creation	24-May-2019
Last entry update	19-Dec-2024
Version number	10