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Cellosaurus TRNDi008-B (CVCL_B5V3)

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Cell line name TRNDi008-B
Synonyms NCATS-CL6486; HT525B; GM28230; GM28230*D
Accession CVCL_B5V3
Resource Identification Initiative To cite this cell line use: TRNDi008-B (RRID:CVCL_B5V3)
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 (from parent cell line).
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=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)

Cross-references
Cell line collections (Providers) Coriell; GM28230
Encyclopedic resources Wikidata; Q112041815
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number8