ID   HHUUKDi012-A
AC   CVCL_C1PV
SY   AATD iPSC-2; ISRM-AATD-iPSC-2
DR   BioSamples; SAMEA13944732
DR   hPSCreg; HHUUKDi012-A
DR   Wikidata; Q114311620
RX   PubMed=37506509;
CC   From: Heinrich-Heine-Universitat Dusseldorf; Dusseldorf; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Homozygous; Note=Z allele (PubMed=37506509).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C84397; Alpha-1 antitrypsin deficiency
DI   ORDO; Orphanet_60; Alpha-1 antitrypsin deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   63Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 05-10-23; Version: 5
//
RX   PubMed=37506509; DOI=10.1016/j.scr.2023.103171;
RA   Ncube A., Bewersdorf L., Spitzhorn L.-S., Loerch C., Bohndorf M.,
RA   Graffmann N., May L., Amzou S., Fromme M., Wruck W., Strnad P.,
RA   Adjaye J.;
RT   "Generation of two alpha-I antitrypsin deficiency patient-derived
RT   induced pluripotent stem cell lines ISRM-AATD-iPSC-1 (HHUUKDi011-A)
RT   and ISRM-AATD-iPSC-2 (HHUUKDi012-A).";
RL   Stem Cell Res. 71:103171-103171(2023).
//