Cellosaurus cell line L2.12 (CVCL

Entry history
Cell line name	L2.12
Synonyms	LND12
Accession	CVCL_E7V5
Resource Identification Initiative	To cite this cell line use: L2.12 (RRID:CVCL_E7V5)
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.Arg170Ter (c.508C>T); ClinVar=VCV000010063; 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	10Y
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 creation	10-Apr-2025
Last entry update	10-Apr-2025
Version number	1