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Cellosaurus TRNDi004-I (CVCL_UL22)

[Text version]
Cell line name TRNDi004-I
Synonyms HT222I; GM28078; GM28078*C
Accession CVCL_UL22
Resource Identification Initiative To cite this cell line use: TRNDi004-I (RRID:CVCL_UL22)
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:11120; SMPD1; Simple; p.Leu43_Ala44del; Zygosity=Heterozygous (PubMed=31009819).
Disease Niemann-Pick disease, type B (NCIt: C126866)
Niemann-Pick disease type B (ORDO: Orphanet_77293)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_DA34 (GM11097)
Sex of cell Male
Age at sampling 1Y
Category Induced pluripotent stem cell
Publications

PubMed=31009819; DOI=10.1016/j.scr.2019.101436; PMCID=PMC6643268
Baskfield A., Li R., Beers J.K., Zou J.-H., Liu C.-Y., Zheng W.
Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene.
Stem Cell Res. 37:101436-101436(2019)

Cross-references
Cell line collections (Providers) Coriell; GM28078
Cell line databases/resources hPSCreg; TRNDi004-I
Encyclopedic resources Wikidata; Q98133589
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number9