Cellosaurus cell line TRNDi006-A (CVCL

Cross-references
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; 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; PMCID=PMC6559735 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)
Cell line databases/resources	hPSCreg; TRNDi006-A
Encyclopedic resources	Wikidata; Q98133594
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	10