Home  |  Contact

Cellosaurus AKOSi001-A (CVCL_UL88)

[Text version]

Cell line name AKOSi001-A
Synonyms iPS GM18455-1; GM18455-1 (NPC2); NPC2 (p.E20X;C47F); NPC2 (c.58G>C;c.140G>T)
Accession CVCL_UL88
Resource Identification Initiative To cite this cell line use: AKOSi001-A (RRID:CVCL_UL88)
Comments From: Albrecht-Kossel Institute for Neuroregeneration, University Medicine Rostock; Rostock; Germany.
Derived from sampling site: Skin.
Sequence variations Mutation; HGNC; 14537; NPC2; Simple; p.Glu20Ter (c.58G>T); ClinVar=VCV000008477; Zygosity=Heterozygous (PubMed=31669975).
Mutation; HGNC; 14537; NPC2; Simple; p.Cys47Phe (c.140G>T); ClinVar=VCV000549984; Zygosity=Heterozygous (PubMed=31669975).
Disease Niemann-Pick disease, type C2 (NCIt: C126865)
Niemann-Pick disease type C (ORDO: Orphanet_646)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_DA79 (GM18455)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=31669975; DOI=10.1016/j.scr.2019.101606
Volkner C., Peter F., Liedtke M., Krohn S., Lindner I., Murua Escobar H., Cimmaruta C., Lukas J., Hermann A., Frech M.J.
Generation of the Niemann-Pick type C2 patient-derived iPSC line AKOSi001-A.
Stem Cell Res. 41:101606-101606(2019)

Cross-references
Cell line databases/resources hPSCreg; AKOSi001-A
Other Wikidata; Q93324065
Entry history
Entry creation25-Feb-2019
Last entry update20-May-2021
Version number7