Cellosaurus cell line TRNDi008-A (CVCL

Cellosaurus TRNDi008-A (CVCL_UL28)

Cross-references
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; 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; PMCID=PMC6642610 Jun-Jie Hong, Miao Xu, Rong Li, Yu-Shan Cheng, Jennifer Kouznetsova, Jeanette K. Beers, Cheng-Yu Liu, Ji-Zhong Zou, Wei Zheng; 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; PMCID=PMC8810712 Jun-Jie Hong, Yu-Shan Cheng, Shu Yang, Manju Swaroop, Miao Xu, Jeanette K. Beers, Ji-Zhong Zou, Wen-Wei Huang, Juan Jose Marugan, Xiu-Jun Cai, Wei Zheng; 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)
Cell line databases/resources	hPSCreg; TRNDi008-A
Encyclopedic resources	Wikidata; Q98133597
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	10