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Cellosaurus TRNDi006-A (CVCL_UL25)

[Text version]
Cell line name TRNDi006-A
Synonyms HT527A
Accession CVCL_UL25
Resource Identification Initiative To cite this cell line use: TRNDi006-A (RRID:CVCL_UL25)
Comments From: NIH-NCATS-TRND Branch; Rockville; USA.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7632; NAGLU; Simple; p.Glu153Lys (c.457G>A); ClinVar=VCV001067431; Zygosity=Homozygous (PubMed=30933722).
Disease Mucopolysaccharidosis type IIIB (NCIt: C84898)
Sanfilippo syndrome type B (ORDO: Orphanet_79270)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_0M01 (GM01426)
Sex of cell Female
Age at sampling 1Y
Category Induced pluripotent stem cell
Publications

PubMed=30933722; DOI=10.1016/j.scr.2019.101427
Huang W., Xu M., Li R., Baskfield A., Kouznetsova J., Beers J.K., Zou J.-H., Liu C.-Y., Zheng W.
An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene.
Stem Cell Res. 37:101427-101427(2019)

Cross-references
Cell line databases/resources hPSCreg; TRNDi006-A
Encyclopedic resources Wikidata; Q98133594
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number9