A Highly Phenotyped Open Access Repository of Alpha-1 Antitrypsin Deficiency Pluripotent Stem Cells.
Access to Information
Adolescent
Adult
Aged
Aged, 80 and over
CRISPR-Cas Systems
/ genetics
Cell Differentiation
Cell Lineage
Databases as Topic
Endoderm
/ pathology
Female
Gene Editing
Genetic Loci
Genotype
Hepatocytes
/ pathology
Humans
Induced Pluripotent Stem Cells
/ pathology
Lung
/ diagnostic imaging
Male
Middle Aged
Mutation
/ genetics
Phenotype
Transcriptome
/ genetics
alpha 1-Antitrypsin
/ genetics
alpha 1-Antitrypsin Deficiency
/ diagnostic imaging
alpha-1 antitrypsin deficiency
hepatic-directed differentiation
iPSC repository
lung progenitor-directed differentiation
Journal
Stem cell reports
ISSN: 2213-6711
Titre abrégé: Stem Cell Reports
Pays: United States
ID NLM: 101611300
Informations de publication
Date de publication:
14 07 2020
14 07 2020
Historique:
received:
21
11
2019
revised:
03
06
2020
accepted:
04
06
2020
pubmed:
4
7
2020
medline:
3
6
2021
entrez:
4
7
2020
Statut:
ppublish
Résumé
Individuals with the genetic disorder alpha-1 antitrypsin deficiency (AATD) are at risk of developing lung and liver disease. Patient induced pluripotent stem cells (iPSCs) have been found to model features of AATD pathogenesis but only a handful of AATD patient iPSC lines have been published. To capture the significant phenotypic diversity of the patient population, we describe here the establishment and characterization of a curated repository of AATD iPSCs with associated disease-relevant clinical data. To highlight the utility of the repository, we selected a subset of iPSC lines for functional characterization. Selected lines were differentiated to generate both hepatic and lung cell lineages and analyzed by RNA sequencing. In addition, two iPSC lines were targeted using CRISPR/Cas9 editing to accomplish scarless repair. Repository iPSCs are available to investigators for studies of disease pathogenesis and therapeutic discovery.
Identifiants
pubmed: 32619491
pii: S2213-6711(20)30227-7
doi: 10.1016/j.stemcr.2020.06.006
pmc: PMC7363960
pii:
doi:
Substances chimiques
SERPINA1 protein, human
0
alpha 1-Antitrypsin
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
242-255Subventions
Organisme : NCATS NIH HHS
ID : U01 TR001810
Pays : United States
Organisme : NHLBI NIH HHS
ID : R24 HL123828
Pays : United States
Organisme : NHLBI NIH HHS
ID : T32 HL007035
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK117940
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK101501
Pays : United States
Organisme : NHLBI NIH HHS
ID : RC2 HL101535
Pays : United States
Informations de copyright
Copyright © 2020 The Authors. Published by Elsevier Inc. All rights reserved.
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