ID   DHMCi004-A
AC   CVCL_VS00
SY   NBAS_2A_IPS
DR   hPSCreg; DHMCi004-A
DR   Wikidata; Q93527337
RX   PubMed=30772683;
CC   From: Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine Heidelberg; Heidelberg; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:15625; NBAS; Simple; p.Leu903Arg (c.2708T>G); ClinVar=VCV000204582; Zygosity=Homozygous (PubMed=30772683).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C158135; Infantile liver failure syndrome 2
DI   ORDO; Orphanet_464724; Fever-associated acute infantile liver failure syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 10
//
RX   PubMed=30772683; DOI=10.1016/j.scr.2019.101398;
RA   Lenz, Dominic
RA   Staufner, Christian
RA   Wachter, Selina
RA   Hagedorn, Maike
RA   Ebersold, Juliane
RA   Gohring, Gudrun
RA   Kolker, Stefan
RA   Hoffmann, Georg F.
RA   Jung-Klawitter, Sabine
RT   "Generation of an iPSC line from a patient with infantile liver
RT   failure syndrome 2 due to mutations in NBAS: DHMCi004-A.";
RL   Stem Cell Res. 35:101398-101398(2019).
//