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Cellosaurus TRNDi008-A (CVCL_UL28)

[Text version]
Cell line name TRNDi008-A
Synonyms NCATS-CL6485; HT525A
Accession CVCL_UL28
Resource Identification Initiative To cite this cell line use: TRNDi008-A (RRID:CVCL_UL28)
Comments From: NIH-NCATS-TRND Branch; Rockville; USA.
Population: Caribbean; Haitian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 5389; IDS; Simple; p.His70Profs*29 (c.208dupC) (c.208insC); ClinVar=VCV000195037; Zygosity=Hemizygous (PubMed=31071499).
Disease Hunter syndrome (NCIt: C61260)
Mucopolysaccharidosis type 2 (ORDO: Orphanet_580)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_N205 (GM13203)
Sex of cell Male
Age at sampling 3Y
Category Induced pluripotent stem cell
Publications

PubMed=31071499; DOI=10.1016/j.scr.2019.101451
Hong J.-J., Xu M., Li R., Cheng Y.-S., Kouznetsova J., Beers J.K., Liu C.-Y., Zou J.-H., Zheng W.
Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene.
Stem Cell Res. 37:101451-101451(2019)

PubMed=34990619; DOI=10.1016/j.yexcr.2021.113007
Hong J.-J., Cheng Y.-S., Yang S., Swaroop M., Xu M., Beers J.K., Zou J.-H., Huang W.-W., Marugan J.J., Cai X.-J., Zheng W.
iPS-derived neural stem cells for disease modeling and evaluation of therapeutics for mucopolysaccharidosis type II.
Exp. Cell Res. 412:113007.1-113007.10(2022)

Cross-references
Cell line databases/resources hPSCreg; TRNDi008-A
Encyclopedic resources Wikidata; Q98133597
Entry history
Entry creation25-Feb-2019
Last entry update05-Oct-2023
Version number9