ID   HHUUKDi013-A
AC   CVCL_F0RH
SY   ISRM-AATD-iPSC-3
DR   BioSamples; SAMEA118769832
DR   hPSCreg; HHUUKDi013-A
RX   PubMed=40602288;
CC   From: Heinrich-Heine-Universitat Dusseldorf; Dusseldorf; Germany.
CC   Sequence variation: Mutation; HGNC; HGNC:8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Homozygous; Note=Z allele (PubMed=40602288).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
CC   Cell type: Urine-derived renal progenitor cell.
DI   NCIt; C84397; Alpha-1 antitrypsin deficiency
DI   ORDO; Orphanet_60; Alpha-1 antitrypsin deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
//
RX   PubMed=40602288; DOI=10.1016/j.scr.2025.103762;
RA   Loerch, Christiane
RA   Hokamp, Rabea
RA   Wruck, Wasco
RA   Katzer, David
RA   Weigert, Alexander
RA   Machui, Alexander
RA   Graffmann, Nina
RA   Ganschow, Rainer
RA   Adjaye, James
RT   "Generation of an induced pluripotent stem cell line HHUUKDi013-A
RT   (ISRM-AATD-iPSC-3) from a pediatric patient of alpha-I antitrypsin
RT   deficiency (AATD).";
RL   Stem Cell Res. 87:103762-103762(2025).
//