ID   TRNDi028-A
AC   CVCL_B5TU
SY   HT268A
DR   hPSCreg; TRNDi028-A
DR   Wikidata; Q112041859
RX   PubMed=29631617;
RX   PubMed=30220252;
RX   PubMed=33375166;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Thr408Met (c.1223C>T) (T369M); ClinVar=VCV000093447; Zygosity=Heterozygous (from parent cell line).
CC   Derived from site: In situ; Chest, skin; UBERON=UBERON_0001868.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_7434 ! GM05659
SX   Male
AG   1Y2M
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 5
//
RX   PubMed=29631617; DOI=10.1186/s13023-018-0798-2;
RA   Sima N., Li R., Huang W., Xu M., Beers J.K., Zou J.-Z., Titus S.A.,
RA   Ottinger E.A., Marugan J.J., Xie X., Zheng W.;
RT   "Neural stem cells for disease modeling and evaluation of therapeutics
RT   for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal
RT   ceroid lipofuscinoses.";
RL   Orphanet J. Rare Dis. 13:54.1-54.14(2018).
//
RX   PubMed=30220252; DOI=10.1186/s13023-018-0886-3;
RA   Vu M., Li R., Baskfield A., Lu B., Farkhondeh A., Gorshkov K.,
RA   Motabar O., Beers J.K., Chen G.-K., Zou J.-Z., Espejo-Mojica A.J.,
RA   Rodriguez-Lopez A., Almeciga-Diaz C.J., Barrera L.A., Jiang X.-T.,
RA   Ory D.S., Marugan J.J., Zheng W.;
RT   "Neural stem cells for disease modeling and evaluation of therapeutics
RT   for Tay-Sachs disease.";
RL   Orphanet J. Rare Dis. 13:152.1-152.15(2018).
//
RX   PubMed=33375166; DOI=10.3390/cells10010008;
RA   Cheng Y.-S., Yang S., Hong J.-J., Li R., Beers J.K., Zou J.-Z.,
RA   Huang W.-W., Zheng W.;
RT   "Modeling CNS involvement in Pompe disease using neural stem cells
RT   generated from patient-derived induced pluripotent stem cells.";
RL   Cells 10:8.1-8.14(2021).
//