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Cellosaurus NIHTVBi028-A (CVCL_C4RU)

[Text version]
Cell line name NIHTVBi028-A
Synonyms HT605B
Accession CVCL_C4RU
Resource Identification Initiative To cite this cell line use: NIHTVBi028-A (RRID:CVCL_C4RU)
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; 6735; LYN; Simple; p.Tyr508Ter (c.1524C>G); ClinVar=VCV001895417; Zygosity=Homozygous (PubMed=36215934).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1Y10M
Category Induced pluripotent stem cell
Publications

PubMed=36215934; DOI=10.1016/j.scr.2022.102933; PMCID=PMC9674432
Harper R., Yu Q., Liu Y.-T., Yang D., Zou J.-H., Beers J.K., de Jesus Rasheed A.A., Goldbach-Mansky R.T., Boehm M., Chen G.-B.
Human induced pluripotent stem cells generated from a patient with a homozygous mutation in the Lyn kinase gene.
Stem Cell Res. 64:102933-102933(2022)

Cross-references
Cell line databases/resources hPSCreg; NIHTVBi028-A
Biological sample resources BioSamples; SAMEA111353028
Encyclopedic resources Wikidata; Q116049890
Entry history
Entry creation15-Dec-2022
Last entry update29-Jun-2023
Version number3