ID   TRNDi008-A
AC   CVCL_UL28
SY   NCATS-CL6485; HT525A
DR   hPSCreg; TRNDi008-A
DR   Wikidata; Q98133597
RX   PubMed=31071499;
RX   PubMed=34990619;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Population: Caribbean; Haitian.
CC   Sequence variation: Mutation; HGNC; HGNC:5389; IDS; Simple; p.His70Profs*29 (c.208dupC) (c.208insC); ClinVar=VCV000195037; Zygosity=Hemizygous (PubMed=31071499).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61260; Hunter syndrome
DI   ORDO; Orphanet_580; Mucopolysaccharidosis type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_N205 ! GM13203
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 10
//
RX   PubMed=31071499; DOI=10.1016/j.scr.2019.101451; PMCID=PMC6642610;
RA   Hong J.-J., Xu M., Li R., Cheng Y.-S., Kouznetsova J., Beers J.K.,
RA   Liu C.-Y., Zou J.-Z., Zheng W.;
RT   "Generation of an induced pluripotent stem cell line (TRNDi008-A) from
RT   a Hunter syndrome patient carrying a hemizygous 208insC mutation in
RT   the IDS gene.";
RL   Stem Cell Res. 37:101451-101451(2019).
//
RX   PubMed=34990619; DOI=10.1016/j.yexcr.2021.113007; PMCID=PMC8810712;
RA   Hong J.-J., Cheng Y.-S., Yang S., Swaroop M., Xu M., Beers J.K.,
RA   Zou J.-Z., Huang W.-W., Marugan J.J., Cai X.-J., Zheng W.;
RT   "iPS-derived neural stem cells for disease modeling and evaluation of
RT   therapeutics for mucopolysaccharidosis type II.";
RL   Exp. Cell Res. 412:113007.1-113007.10(2022).
//