Cellosaurus cell line AKOSi001-A (CVCL

Cross-references
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. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; HGNC:14537; NPC2; Simple; p.Glu20Ter (c.58G>T); ClinVar=VCV000008477; Zygosity=Heterozygous (PubMed=31669975). Mutation; HGNC; 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)
Cell line databases/resources	hPSCreg; AKOSi001-A
Encyclopedic resources	Wikidata; Q93324065
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	11