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Cellosaurus PiBB1 (CVCL_D2X1)

[Text version]
Cell line name PiBB1
Accession CVCL_D2X1
Resource Identification Initiative To cite this cell line use: PiBB1 (RRID:CVCL_D2X1)
Comments From: Boston University School of Medicine; Boston; USA.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:8941; SERPINA1; Simple; p.Pro387Argfs*12 (c.1158delC); ClinVar=VCV000444037; Zygosity=Homozygous; Note=Q0 Bolton (PubMed=32619491).
Disease Alpha-1 antitrypsin deficiency (NCIt: C84397)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 46Y
Category Induced pluripotent stem cell
Web pages https://stemcellbank.bu.edu/Catalog/Item/Details/529
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; Q127383064
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3