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Cellosaurus NIHTVBi011-A (CVCL_YM83)

[Text version]

Cell line name NIHTVBi011-A
Synonyms AD-HIES3
Accession CVCL_YM83
Resource Identification Initiative To cite this cell line use: NIHTVBi011-A (RRID:CVCL_YM83)
Comments From: National Heart, Lung, and Blood Institute, National Institutes of Health; Bethesda; USA.
Population: Caucasian.
Derived from sampling site: Skin; dermis.
Sequence variations Mutation; HGNC; 11364; STAT3; Simple; p.Pro639Ala (c.1915C>G); Zygosity=Heterozygous (PubMed=31707214).
Disease Hyperimmunoglobulin E syndrome (NCIt: C3144)
Autosomal dominant hyper-IgE syndrome (ORDO: Orphanet_2314)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 24Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=31707214

Markers:
AmelogeninX,Y
CSF1PO10
D3S135815,17
D5S8189,12
D7S8209,11
D8S11798,15
D13S3179,13
D16S5399,10
D18S5113,17
D21S1129,31
FGA19,25
Penta D9,10
Penta E7,12
TH016,9.3
TPOX8,11
vWA15,16

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Publications

PubMed=31707214; DOI=10.1016/j.scr.2019.101586
Jin H., Yu Z., Navarengom K., Liu Y.-T., Dmitrieva N., Hsu A.P., Schwartzbeck R., Cudrici C., Ferrante E.A., Yang D., Holland S.M., Freeman A.F., Boehm M., Chen G.-B.
Generation of human induced pluripotent stem cell lines (NIHTVBi011-A, NIHTVBi012-A, NIHTVBi013-A) from autosomal dominant hyper IgE syndrome (AD-HIES) patients carrying STAT3 mutation.
Stem Cell Res. 41:101586-101586(2019)

Cross-references
Cell line databases/resources hPSCreg; NIHTVBi011-A
SKIP; SKIP005573
Encyclopedic resources Wikidata; Q98127885
Entry history
Entry creation12-Mar-2020
Last entry update20-May-2021
Version number4