Cellosaurus logo
expasy logo

Cellosaurus RC2 100 3 (CVCL_C932)

[Text][XML][JSON]
Cell line name RC2 100 3
Synonyms iPS AAT #100-3
Accession CVCL_C932
Resource Identification Initiative To cite this cell line use: RC2 100 3 (RRID:CVCL_C932)
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.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Homozygous; Note=Z allele (PubMed=20715179).
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_C933 (RC2 100 3 Cr-1)CVCL_C934 (RC2 100 3 Cr-6)
Sex of cell Female
Age at sampling 67Y
Category Induced pluripotent stem cell
Publications

PubMed=20715179; DOI=10.1002/stem.495; PMCID=PMC3422663
Aba Somers, Jyh-Chang Jean, Cesar A. Sommer, Amel Omari, Christopher C. Ford, Jason A. Mills, Lei Ying, Andreia Gianotti-Sommer, Jenny M. Jean, Brenden W. Smith, Robert Lafyatis ...Show all 18 authors... , Marie-France Demierre, Daniel J. Weiss, Deborah L. French, Paul Gadue, George J. Murphy, Gustavo Mostoslavsky, Darrell N. Kotton; Show fewer authors
Generation of transgene-free lung disease-specific human induced pluripotent stem cells using a single excisable lentiviral stem cell cassette.
Stem Cells 28:1728-1740(2010)

Cross-references
Encyclopedic resources Wikidata; Q54949418
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number18