ID   GM13203
AC   CVCL_N205
SY   GM17358
DR   CLO; CLO_0013207
DR   CLO; CLO_0013728
DR   BioSample; SAMN00802196
DR   Coriell; GM13203
DR   Coriell; GM17358
DR   Wikidata; Q54846379
RX   PubMed=34990619;
CC   Part of: Human variation panel.
CC   Population: Caribbean; Haitian.
CC   Sequence variation: Mutation; HGNC; 5389; IDS; Simple; p.His70Profs*29 (c.208dupC) (c.208insC); ClinVar=VCV000195037; Zygosity=Hemizygous (Coriell=GM13203).
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)
SX   Male
AG   3Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 30-01-24; Version: 16
//
RX   PubMed=34990619; DOI=10.1016/j.yexcr.2021.113007;
RA   Hong J.-J., Cheng Y.-S., Yang S., Swaroop M., Xu M., Beers J.K.,
RA   Zou J.-H., 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).
//