ID   HHUUKDi008-A
AC   CVCL_VN14
SY   S18
DR   hPSCreg; HHUUKDi008-A
DR   Wikidata; Q94207209
RX   PubMed=30071394;
CC   From: Heinrich-Heine-Universitat Dusseldorf; Dusseldorf; Germany.
CC   Sequence variation: Mutation; HGNC; 18590; PNPLA3; Simple; p.Ile148Met (c.444C>G); ClinVar=VCV000341932; Zygosity=Homozygous (PubMed=30071394).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84444; Nonalcoholic fatty liver disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 29-06-23; Version: 7
//
RX   PubMed=30071394; DOI=10.1016/j.scr.2018.07.015;
RA   Graffmann N., Bohndorf M., Ncube A., Kawala M.-A., Wruck W.,
RA   Kashofer K., Zatloukal K., Adjaye J.;
RT   "Establishment and characterization of an iPSC line from a 35 years old
RT   high grade patient with nonalcoholic fatty liver disease (30-40%
RT   steatosis) with homozygous wildtype PNPLA3 genotype.";
RL   Stem Cell Res. 31:113-116(2018).
//