ID   HEL69.5
AC   CVCL_VT45
DR   Wikidata; Q94096141
RX   PubMed=27411166;
RX   PubMed=29339535;
RX   PubMed=30503263;
CC   From: University of Helsinki; Helsinki; Finland.
CC   Sequence variation: Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[>200]; ClinVar=VCV000009972; Zygosity=Hemizygous (PubMed=27411166).
CC   Derived from site: In situ; Foreskin, skin; UBERON=UBERON_0001471.
CC   Cell type: Fibroblast of foreskin; CL=CL_1001608.
DI   NCIt; C84717; Fragile X syndrome
DI   ORDO; Orphanet_908; Fragile X syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Children
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 19-12-24; Version: 10
//
RX   PubMed=27411166; DOI=10.1002/dneu.22419;
RA   Achuta V.S., Grym H., Putkonen N., Louhivuori V., Karkkainen V.,
RA   Koistinaho J., Roybon L., Castren M.L.;
RT   "Metabotropic glutamate receptor 5 responses dictate differentiation
RT   of neural progenitors to NMDA-responsive cells in fragile X
RT   syndrome.";
RL   Dev. Neurobiol. 77:438-453(2017).
//
RX   PubMed=29339535; DOI=10.1126/scisignal.aan8784;
RA   Achuta V.S., Moykkynen T., Peteri U.-K., Turconi G., Rivera C.,
RA   Keinanen K.P., Castren M.L.;
RT   "Functional changes of AMPA responses in human induced pluripotent
RT   stem cell-derived neural progenitors in fragile X syndrome.";
RL   Sci. Signal. 11:eaan8784.1-eaan8784.11(2018).
//
RX   PubMed=30503263; DOI=10.1016/j.stemcr.2018.11.003; PMCID=PMC6294261;
RA   Danesi C., Achuta V.S., Corcoran P., Peteri U.-K., Turconi G.,
RA   Matsui N., Albayrak I., Rezov V., Isaksson A., Castren M.L.;
RT   "Increased calcium influx through L-type calcium channels in human and
RT   mouse neural progenitors lacking fragile X mental retardation
RT   protein.";
RL   Stem Cell Reports 11:1449-1461(2018).
//