ID   WC007i-FX13-2
AC   CVCL_EJ78
SY   FX13-2
DR   WiCell; wc007i-fx13-2
DR   Wikidata; Q54993618
RX   PubMed=24654675;
CC   Sequence variation: Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[>435]; ClinVar=VCV000009972; Zygosity=Hemizygous (PubMed=24654675).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84717; Fragile X syndrome
DI   ORDO; Orphanet_908; Fragile X syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 26-09-16; Last updated: 29-06-23; Version: 12
//
RX   PubMed=24654675; DOI=10.1089/scd.2014.0030;
RA   Doers M.E., Musser M.T., Nichol R., Berndt E.R., Baker M., Gomez T.M.,
RA   Zhang S.-C., Abbeduto L., Bhattacharyya A.;
RT   "iPSC-derived forebrain neurons from FXS individuals show defects in
RT   initial neurite outgrowth.";
RL   Stem Cells Dev. 23:1777-1787(2014).
//