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Cellosaurus PiZZ6 (CVCL_D2XE)

[Text version]
Cell line name PiZZ6
Synonyms PiZZ6S-3
Accession CVCL_D2XE
Resource Identification Initiative To cite this cell line use: PiZZ6 (RRID:CVCL_D2XE)
Comments From: Boston University School of Medicine; Boston; USA.
Population: Caucasian.
Omics: Transcriptome analysis by RNAseq.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Homozygous; Note=Z allele (PubMed=32619491).
Disease Alpha-1 antitrypsin deficiency (NCIt: C84397)
Alpha-1 antitrypsin deficiency (ORDO: Orphanet_60)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_D2XF (PiZZ6-MM)CVCL_D2XG (PiZZ6-MZ)
Sex of cell Female
Age at sampling 16Y
Category Induced pluripotent stem cell
Web pages https://stemcellbank.bu.edu/Catalog/Item/Details/541
Publications

PubMed=32619491; DOI=10.1016/j.stemcr.2020.06.006; PMCID=PMC7363960
Kaserman J.E., Hurley K., Dodge M., Villacorta-Martin C., Vedaie M., Jean J.-C., Liberti D.C., James M.F., Higgins M.I., Lee N.J., Washko G.R., San Jose Estepar R., Teckman J., Kotton D.N., Wilson A.A.
A highly phenotyped open access repository of alpha-1 antitrypsin deficiency pluripotent stem cells.
Stem Cell Reports 15:242-255(2020)

Cross-references
Encyclopedic resources Wikidata; Q127383082
Gene expression databases GEO; GSM4182858
GEO; GSM4182870
GEO; GSM4182882
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3