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Cellosaurus TRNDi005-A (CVCL_UL24)

[Text version]

Cell line name TRNDi005-A
Synonyms HT438A
Accession CVCL_UL24
Resource Identification Initiative To cite this cell line use: TRNDi005-A (RRID:CVCL_UL24)
Comments From: NIH-NCATS-TRND Branch; Rockville; USA.
Sequence variations Heterozygous for GALNS p.Arg61Trp (c.181C>T) and p.Trp405_Thr406del (c.1213_1218delTGGACC) (WT405del) (PubMed=30797135).
Disease Mucopolysaccharidosis type IVA (NCIt: C84901)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_9W81 (GM01361)
Sex of cell Male
Age at sampling 43Y
Category Induced pluripotent stem cell
Publications

PubMed=30797135; DOI=10.1016/j.scr.2019.101408
Li R., Baskfield A., Beers J., Zou J., Liu C., Almeciga-Diaz C.J., Zheng W.
Generation of an induced pluripotent stem cell line (TRNDi005-A) from a mucopolysaccharidosis type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene.
Stem Cell Res. 36:101408-101408(2019)

Cross-references
Cell line databases/resources hPSCreg; TRNDi005-A
Entry history
Entry creation25-Feb-2019
Last entry updated24-May-2019
Version number2