ID   LVPEIi005-A
AC   CVCL_D6MU
SY   LVIP02-LC2-2
DR   BioSamples; SAMEA115159979
DR   hPSCreg; LVPEIi005-A
DR   Wikidata; Q127382711
RX   PubMed=38631180;
RX   PubMed=38942756;
CC   From: LV Prasad Eye Institute; Banjara Hills; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:10294; RPE65; Simple; p.Trp331Ter (c.992G>A); ClinVar=VCV001702637; Zygosity=Homozygous (PubMed=38631180).
CC   Derived from site: In situ; Ear, skin, epidermis; UBERON=UBERON_0001459+UBERON_0001003.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C129075; Leber congenital amaurosis
DI   ORDO; Orphanet_65; Leber congenital amaurosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   24Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
//
RX   PubMed=38631180; DOI=10.1016/j.scr.2024.103413;
RA   Maddileti S., Mahato S., Agrawal T., Dave V.P., Naik M.N.,
RA   Ali M.J., Kannabiran C., Jalali S., Jayandharan G.R., Mariappan I.;
RT   "Generation of two induced pluripotent stem cell lines (LVPEIi004-A
RT   and LVPEIi005-A) from probands with Leber congenital amaurosis 2
RT   (LCA2) and harboring mutations in RPE65.";
RL   Stem Cell Res. 77:103413-103413(2024).
//
RX   PubMed=38942756; DOI=10.1038/s41467-024-49233-w; PMCID=PMC11213958;
RA   Acharya S., Ansari A.H., Das P.K., Hirano S., Aich M., Rauthan R.,
RA   Mahato S., Maddileti S., Sarkar S., Kumar M., Phutela R., Gulati S.,
RA   Rahman A., Goel A., Afzal C., Paul D., Agrawal T., Pulimamidi V.K.,
RA   Jalali S., Nishimasu H., Mariappan I., Nureki O., Maiti S.,
RA   Chakraborty D.;
RT   "PAM-flexible engineered FnCas9 variants for robust and ultra-precise
RT   genome editing and diagnostics.";
RL   Nat. Commun. 15:5471.1-5471.23(2024).
//