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Cellosaurus NIHTVBi012-A (CVCL_YM84)

[Text version]
Cell line name NIHTVBi012-A
Synonyms AD-HIES4
Accession CVCL_YM84
Resource Identification Initiative To cite this cell line use: NIHTVBi012-A (RRID:CVCL_YM84)
Comments From: National Heart, Lung, and Blood Institute, National Institutes of Health; Bethesda; 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; 11364; STAT3; Simple; p.Glu652Lys (c.1954G>A); 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 Female
Age at sampling 56Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=31707214

Markers:
AmelogeninX
CSF1PO11,12
D3S135814,15
D5S81811,12
D7S82011
D8S117912,16
D13S3178,12
D16S53911,12
D18S5114,17
D21S1124.2,28
FGA22,23
Penta D10,13
Penta E13,15
TH018,9.3
TPOX8,11
vWA15,19

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.B., 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; NIHTVBi012-A
SKIP; SKIP005574
Encyclopedic resources Wikidata; Q98127888
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number7