Cellosaurus cell line RC2 102 37 Cr-1 (CVCL

Cellosaurus RC2 102 37 Cr-1 (CVCL_C935)

Cross-references
Cell line name	RC2 102 37 Cr-1
Synonyms	102 37Cr-1; RC2 102; PiZZ102
Accession	CVCL_C935
Resource Identification Initiative	To cite this cell line use: RC2 102 37 Cr-1 (RRID:CVCL_C935)
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; 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)
Originate from same individual	CVCL_C936 ! RC2 102 37 Cr-3
Sex of cell	Female
Age at sampling	51Y
Category	Induced pluripotent stem cell
Web pages	https://stemcellbank.bu.edu/Catalog/Item/Details/525
Publications	PubMed=20715179; DOI=10.1002/stem.495; PMCID=PMC3422663 Somers A., Jean J.-C., Sommer C.A., Omari A., Ford C.C., Mills J.A., Ying L., Gianotti-Sommer A., Jean J.M., Smith B.W., Lafyatis R., Demierre M.-F., Weiss D.J., French D.L., Gadue P., Murphy G.J., Mostoslavsky G., Kotton D.N. 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) 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)
Encyclopedic resources	Wikidata; Q54949422
Entry history
Entry creation	22-Oct-2012
Last entry update	19-Dec-2024
Version number	18