Cellosaurus cell line RC2 100 3 Cr-1 (CVCL

Cellosaurus RC2 100 3 Cr-1 (CVCL_C933)

[Text version]

Cell line name

RC2 100 3 Cr-1

Synonyms

100 3Cr-1; iPS AAT #100-3Cr-1; 100-3-Cr1; 100-3; PiZZ100

Accession

CVCL_C933

Resource Identification Initiative

To cite this cell line use: RC2 100 3 Cr-1 (RRID:CVCL_C933)

Comments

From: Boston University School of Medicine; Boston; USA.
Population: Caucasian.
Omics: Transcriptome analysis by RNAseq.
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)

Hierarchy

Parent: CVCL_C932 (RC2 100 3)
Children:

CVCL_D2XI (PiZZ100-MM)

CVCL_D2XJ (PiZZ100-MZ)

Sex of cell

Female

Age at sampling

67Y

Category

Induced pluripotent stem cell

Web pages

https://stemcellbank.bu.edu/Catalog/Item/Details/518

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)

Cross-references

Encyclopedic resources

Wikidata; Q54949420

Gene expression databases

GEO; GSM4182788
GEO; GSM4182800
GEO; GSM4182812

Entry history

Entry creation

22-Oct-2012

Last entry update

19-Dec-2024

Version number