Cellosaurus cell line AKOSi006-A (CVCL

Cross-references
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 site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 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)
Cell line databases/resources	hPSCreg; AKOSi006-A
Encyclopedic resources	Wikidata; Q105506395
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	6