ID   CS14iCTR28-n6
AC   CVCL_JK54
SY   CS14iCTR28n6; CS14iCTR-n6; CS14iCTR
DR   CLO; CLO_0037500
DR   LINCS_LDP; LSC-1002
DR   Wikidata; Q54814529
RX   PubMed=25740845;
RX   PubMed=28526555;
CC   From: Cedars-Sinai Medical Center iPSC Core Facility; Los Angeles; USA.
CC   Population: Caucasian.
CC   Sequence variation: Gene amplification; HGNC; 11118; SMN2; Extensive; Zygosity=Unspecified; Note=5 copies (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Heterozygous (from parent cell line).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_F173 ! GM03814
SX   Female
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 15-05-17; Last updated: 29-06-23; Version: 14
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RX   PubMed=25740845; DOI=10.1093/hmg/ddv080; PMCID=PMC4424959;
RA   Mattis V.B., Tom C., Akimov S., Saeedian J., Ostergaard M.E.,
RA   Southwell A.L., Doty C.N., Ornelas L., Sahabian A., Lenaeus L.,
RA   Mandefro B., Sareen D., Arjomand J., Hayden M.R., Ross C.A.,
RA   Svendsen C.N.;
RT   "HD iPSC-derived neural progenitors accumulate in culture and are
RT   susceptible to BDNF withdrawal due to glutamate toxicity.";
RL   Hum. Mol. Genet. 24:3257-3271(2015).
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RX   PubMed=28526555; DOI=10.1016/j.stem.2017.04.002; PMCID=PMC6659720;
RA   Vatine G.D., Al-Ahmad A., Barriga B.K., Svendsen S., Salim A.,
RA   Garcia L., Garcia V.J., Ho R., Yucer N., Qian T.-C., Lim R.G., Wu J.,
RA   Thompson L.M., Spivia W.R., Chen Z.-H., Van Eyk J.E., Palecek S.P.,
RA   Refetoff S., Shusta E.V., Svendsen C.N.;
RT   "Modeling psychomotor retardation using iPSCs from MCT8-deficient
RT   patients indicates a prominent role for the blood-brain barrier.";
RL   Cell Stem Cell 20:831-843.e5(2017).
//