Cellosaurus logo
expasy logo

Cellosaurus HHUUKDi011-A (CVCL_C1PU)

[Text][XML][JSON]
Cell line name HHUUKDi011-A
Synonyms AATD iPSC-1; ISRM-AATD-iPSC-1
Accession CVCL_C1PU
Resource Identification Initiative To cite this cell line use: HHUUKDi011-A (RRID:CVCL_C1PU)
Comments From: Heinrich-Heine-Universitat Dusseldorf; Dusseldorf; Germany.
Population: Caucasian.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; HGNC:8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Homozygous; Note=Z allele (PubMed=37506509).
Disease Alpha-1 antitrypsin deficiency (NCIt: C84397)
Alpha-1 antitrypsin deficiency (ORDO: Orphanet_60)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 57Y
Category Induced pluripotent stem cell
Publications

PubMed=37506509; DOI=10.1016/j.scr.2023.103171
Audrey Ncube, Lisa Bewersdorf, Lucas-Sebastian Spitzhorn, Christiane Loerch, Martina Bohndorf, Nina Graffmann, Lea May, Samira Amzou, Malin Fromme, Wasco Wruck, Pavel Strnad, James Adjaye;
Generation of two alpha-I antitrypsin deficiency patient-derived induced pluripotent stem cell lines ISRM-AATD-iPSC-1 (HHUUKDi011-A) and ISRM-AATD-iPSC-2 (HHUUKDi012-A).
Stem Cell Res. 71:103171-103171(2023)

Cross-references
Cell line databases/resources hPSCreg; HHUUKDi011-A
Biological sample resources BioSamples; SAMEA13944731
Encyclopedic resources Wikidata; Q114311619
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number6