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Cellosaurus AKOSi006-A (CVCL_A4DG)

[Text version]

Cell line name AKOSi006-A
Synonyms iPS GM18453-S4; iPS 006-A
Accession CVCL_A4DG
Resource Identification Initiative To cite this cell line use: AKOSi006-A (RRID:CVCL_A4DG)
Comments From: Albrecht-Kossel Institute for Neuroregeneration, University Medicine Rostock; Rostock; Germany.
Derived from sampling site: Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 7897; NPC1; Simple; p.Ile1061Thr (c.3182T>C); ClinVar=VCV000002967; Zygosity=Homozygous (PubMed=33099109).
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_DA78 (GM18453)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=33099109; DOI=10.1016/j.scr.2020.102056
Volkner C., Liedtke M., Petters J., Huth K., Knuebel G., Murua Escobar H., Bullerdiek J., Lukas J., Hermann A., Frech M.J.
Generation of an iPSC line (AKOSi006-A) from fibroblasts of an NPC1 patient, carrying the homozygous mutation p.I1061T (c.3182 T > C) and a control iPSC line (AKOSi007-A) using a non-integrating Sendai virus system.
Stem Cell Res. 49:102056-102056(2020)

Cross-references
Cell line databases/resources hPSCreg; AKOSi006-A
Encyclopedic resources Wikidata; Q105506395
Entry history
Entry creation12-Jan-2021
Last entry update17-Mar-2022
Version number3