Cellosaurus cell line RC2 103 43 Cr-3 (CVCL

Cellosaurus RC2 103 43 Cr-3 (CVCL_C938)

Cross-references
Cell line name	RC2 103 43 Cr-3
Synonyms	103 43Cr-3
Accession	CVCL_C938
Resource Identification Initiative	To cite this cell line use: RC2 103 43 Cr-3 (RRID:CVCL_C938)
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)
Originate from same individual	CVCL_C937 ! RC2 103 43 Cr-1
Sex of cell	Female
Age at sampling	61Y
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)
Encyclopedic resources	Wikidata; Q54949425
Entry history
Entry creation	22-Oct-2012
Last entry update	19-Dec-2024
Version number	18