Cellosaurus cell line L1.04 (CVCL

Entry history
Cell line name	L1.04
Synonyms	LND4
Accession	CVCL_E7V3
Resource Identification Initiative	To cite this cell line use: L1.04 (RRID:CVCL_E7V3)
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 Diane J. Sutcliffe, Ashok R. Dinasarapu, Jasper E. Visser, Joery den Hoed, Fatemeh Seifar, Piyush Joshi, Irene Ceballos-Picot, Tejas A. Sardar, Ellen J. Hess, Yan V. Sun, Zhe-Xing Wen ...Show all 13 authors... , Michael E. Zwick, Hyder A. Jinnah; Show fewer authors 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