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Cellosaurus HHUUKDi013-A (CVCL_F0RH)

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Cell line name HHUUKDi013-A
Synonyms ISRM-AATD-iPSC-3
Accession CVCL_F0RH
Resource Identification Initiative To cite this cell line use: HHUUKDi013-A (RRID:CVCL_F0RH)
Comments From: Heinrich-Heine-Universitat Dusseldorf; Dusseldorf; Germany.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Cell type: Urine-derived renal progenitor cell.
Sequence variations
  • Mutation; HGNC; HGNC:8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Homozygous; Note=Z allele (PubMed=40602288).
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 11Y
Category Induced pluripotent stem cell
Publications

PubMed=40602288; DOI=10.1016/j.scr.2025.103762
Christiane Loerch, Rabea Hokamp, Wasco Wruck, David Katzer, Alexander Weigert, Alexander Machui, Nina Graffmann, Rainer Ganschow, James Adjaye;
Generation of an induced pluripotent stem cell line HHUUKDi013-A (ISRM-AATD-iPSC-3) from a pediatric patient of alpha-I antitrypsin deficiency (AATD).
Stem Cell Res. 87:103762-103762(2025)

Cross-references
Cell line databases/resources hPSCreg; HHUUKDi013-A
Biological sample resources BioSamples; SAMEA118769832
Entry history
Entry creation27-Nov-2025
Last entry update27-Nov-2025
Version number1