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Cellosaurus AKOSi004-A (CVCL_A4DI)

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Cell line name AKOSi004-A
Synonyms iPS DD-NPC1-12; iPS 004-A
Accession CVCL_A4DI
Resource Identification Initiative To cite this cell line use: AKOSi004-A (RRID:CVCL_A4DI)
Comments From: Albrecht-Kossel Institute for Neuroregeneration, University Medicine Rostock; Rostock; Germany.
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Gly992Arg (c.2974G>C); ClinVar=VCV000002969; Zygosity=Heterozygous (PubMed=33360098).
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Val1023Serfs*15 (c.3066_3073delinsT); Zygosity=Heterozygous (PubMed=33360098).
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)
Sex of cell Female
Age at sampling 33Y
Category Induced pluripotent stem cell
Publications

PubMed=33360098; DOI=10.1016/j.scr.2020.102127
Christin Volkner, Maik Liedtke, Janine Petters, Jan Lukas, Hugo Murua Escobar, Gudrun Knuebel, Jorn Bullerdiek, Carsten Holzmann, Andreas Hermann, Moritz J. Frech;
Generation of an iPSC line (AKOSi004-A) from fibroblasts of a female adult NPC1 patient, carrying the compound heterozygous mutation p.Val1023Serfs*15/p.Gly992Arg and of an iPSC line (AKOSi005-A) from a female adult control individual.
Stem Cell Res. 50:102127-102127(2021)

Cross-references
Cell line databases/resources hPSCreg; AKOSi004-A
Encyclopedic resources Wikidata; Q105506389
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6