Home  |  Contact

Cellosaurus NIHTVBi013-A (CVCL_YM85)

[Text version]

Cell line name NIHTVBi013-A
Synonyms AD-HIES5
Accession CVCL_YM85
Resource Identification Initiative To cite this cell line use: NIHTVBi013-A (RRID:CVCL_YM85)
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.Val463del (c.1384_1386GTG[1]) (c.1387_1389delGTG); ClinVar=VCV000018303; 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 49Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=31707214

Markers:
AmelogeninX,Y
CSF1PO11,12
D3S135815,17
D5S81812
D7S82010
D8S117916
D13S31712,13
D16S53911,13
D18S5117
D21S1127,31.2
FGA21,24
Penta D9,11
Penta E11,17
TH017,9.3
TPOX8
vWA16,17

Run an STR similarity search on this cell line
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; NIHTVBi013-A
SKIP; SKIP005575
Encyclopedic resources Wikidata; Q98127890
Entry history
Entry creation12-Mar-2020
Last entry update20-May-2021
Version number4