Cellosaurus cell line DHMCi004-A (CVCL

Cross-references
Cell line name	DHMCi004-A
Synonyms	NBAS_2A_IPS
Accession	CVCL_VS00
Resource Identification Initiative	To cite this cell line use: DHMCi004-A (RRID:CVCL_VS00)
Comments	From: Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine Heidelberg; Heidelberg; Germany. Population: Caucasian. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; HGNC:15625; NBAS; Simple; p.Leu903Arg (c.2708T>G); ClinVar=VCV000204582; Zygosity=Homozygous (PubMed=30772683).
Disease	Infantile liver failure syndrome 2 (NCIt: C158135) Fever-associated acute infantile liver failure syndrome (ORDO: Orphanet_464724)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	2Y
Category	Induced pluripotent stem cell
Publications	PubMed=30772683; DOI=10.1016/j.scr.2019.101398 Dominic Lenz, Christian Staufner, Selina Wachter, Maike Hagedorn, Juliane Ebersold, Gudrun Gohring, Stefan Kolker, Georg F. Hoffmann, Sabine Jung-Klawitter; Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A. Stem Cell Res. 35:101398-101398(2019)
Cell line databases/resources	hPSCreg; DHMCi004-A
Encyclopedic resources	Wikidata; Q93527337
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	10