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Cellosaurus TRNDi005-A (CVCL_UL24)

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Cell line name TRNDi005-A
Synonyms HT438A; GM28601; GM28601*C
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.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4122; GALNS; Simple; p.Arg61Trp (c.181C>T); ClinVar=VCV000381663; Zygosity=Heterozygous (PubMed=30797135).
  • Mutation; HGNC; HGNC:4122; GALNS; Simple; p.Trp405_Thr406del (c.1207_1212TGGACC[1]) (c.1213_1218delTGGACC) (p.403_404WT[1]) (WT405del); ClinVar=VCV000566964; Zygosity=Heterozygous (PubMed=30797135).
Disease Mucopolysaccharidosis type IVA (NCIt: C84901)
Mucopolysaccharidosis type 4A (ORDO: Orphanet_309297)
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; PMCID=PMC8045742
Rong Li, Amanda Baskfield, Jeanette K. Beers, Ji-Zhong Zou, Cheng-Yu Liu, Carlos Javier Almeciga-Diaz, Wei Zheng;
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 collections (Providers) Coriell; GM28601
Cell line databases/resources hPSCreg; TRNDi005-A
Encyclopedic resources Wikidata; Q98133593
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number12