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Cellosaurus L1.02 (CVCL_E7V2)

[Text version]
Cell line name L1.02
Synonyms LND2
Accession CVCL_E7V2
Resource Identification Initiative To cite this cell line use: L1.02 (RRID:CVCL_E7V2)
Comments Population: Caucasian.
Omics: Proteomics.
Omics: Transcriptomics; RNAseq.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:5157; HPRT1; Simple; p.Leu125Phefs (c.371insTT); Zygosity=Hemizygous (PubMed=33875724).
Disease Lesch-Nyhan syndrome (NCIt: C61255)
Lesch-Nyhan syndrome (ORDO: Orphanet_510)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 46Y
Category Induced pluripotent stem cell
Web pages Provider; Emory OTT; 17210; https://emoryott.technologypublisher.com/techcase/17210
Publications

PubMed=33875724; DOI=10.1038/s41598-021-87955-9; PMCID=PMC8055678
Sutcliffe D.J., Dinasarapu A.R., Visser J.E., den Hoed J., Seifar F., Joshi P., Ceballos-Picot I., Sardar T.A., Hess E.J., Sun Y.V., Wen Z.-X., Zwick M.E., Jinnah H.A.
Induced pluripotent stem cells from subjects with Lesch-Nyhan disease.
Sci. Rep. 11:8523.1-8523.15(2021)

Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1