ID   L1.02
AC   CVCL_E7V2
SY   LND2
RX   PubMed=33875724;
WW   Provider; Emory OTT; 17210; https://emoryott.technologypublisher.com/techcase/17210
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:5157; HPRT1; Simple; p.Leu125Phefs (c.371insTT); Zygosity=Hemizygous (PubMed=33875724).
CC   Omics: Proteomics.
CC   Omics: Transcriptomics; RNAseq.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61255; Lesch-Nyhan syndrome
DI   ORDO; Orphanet_510; Lesch-Nyhan syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   46Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   PubMed=33875724; DOI=10.1038/s41598-021-87955-9; PMCID=PMC8055678;
RA   Sutcliffe D.J., Dinasarapu A.R., Visser J.E., den Hoed J., Seifar F.,
RA   Joshi P., Ceballos-Picot I., Sardar T.A., Hess E.J., Sun Y.V., Wen Z.-X.,
RA   Zwick M.E., Jinnah H.A.;
RT   "Induced pluripotent stem cells from subjects with Lesch-Nyhan
RT   disease.";
RL   Sci. Rep. 11:8523.1-8523.15(2021).
//