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Cellosaurus TRNDi027-A (CVCL_B5V1)

[Text version]
Cell line name TRNDi027-A
Synonyms HT237A
Accession CVCL_B5V1
Resource Identification Initiative To cite this cell line use: TRNDi027-A (RRID:CVCL_B5V1)
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; 7897; NPC1; Simple; p.Pro237Ser (c.709C>T); ClinVar=VCV000021142; Zygosity=Heterozygous (PubMed=29631617).
  • Mutation; HGNC; 7897; NPC1; Simple; p.Ile1061Thr (c.3182T>C); ClinVar=VCV000002967; Zygosity=Heterozygous (PubMed=29631617).
Disease Niemann-Pick disease, type C1 (NCIt: C126864)
Niemann-Pick disease type C (ORDO: Orphanet_646)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_7374 (GM03123)
Sex of cell Female
Age at sampling 9Y
Category Induced pluripotent stem cell
Publications

PubMed=29631617; DOI=10.1186/s13023-018-0798-2; PMCID=PMC5891977
Sima N., Li R., Huang W., Xu M., Beers J.K., Zou J.-Z., Titus S.A., Ottinger E.A., Marugan J.J., Xie X., Zheng W.
Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.
Orphanet J. Rare Dis. 13:54.1-54.14(2018)

Cross-references
Cell line databases/resources hPSCreg; TRNDi027-A
Encyclopedic resources Wikidata; Q112041857
Entry history
Entry creation17-Mar-2022
Last entry update29-Jun-2023
Version number4