ID   LVPEIi005-A-1
AC   CVCL_E4X9
SY   LCA2-2-BE1
DR   hPSCreg; LVPEIi005-A-1
RX   PubMed=38942756;
CC   From: LV Prasad Eye Institute; Banjara Hills; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:10294; RPE65; Simple_corrected; p.Trp331Ter (c.992G>A); ClinVar=VCV001702637; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=38942756).
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)
HI   CVCL_D6MU ! LVPEIi005-A
SX   Male
AG   24Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
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).
//