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Cellosaurus LVPEIi005-A-1 (CVCL_E4X9)

[Text version]
Cell line name LVPEIi005-A-1
Synonyms LCA2-2-BE1
Accession CVCL_E4X9
Resource Identification Initiative To cite this cell line use: LVPEIi005-A-1 (RRID:CVCL_E4X9)
Comments From: LV Prasad Eye Institute; Banjara Hills; India.
Population: Indian.
Derived from site: In situ; Ear, skin, epidermis; UBERON=UBERON_0001459+UBERON_0001003.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:10294; RPE65; Simple_corrected; p.Trp331Ter (c.992G>A); ClinVar=VCV001702637; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=38942756).
Disease Leber congenital amaurosis (NCIt: C129075)
Leber congenital amaurosis (ORDO: Orphanet_65)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_D6MU (LVPEIi005-A)
Sex of cell Male
Age at sampling 24Y
Category Induced pluripotent stem cell
Publications

PubMed=38942756; DOI=10.1038/s41467-024-49233-w; PMCID=PMC11213958
Acharya S., Ansari A.H., Das P.K., Hirano S., Aich M., Rauthan R., Mahato S., Maddileti S., Sarkar S., Kumar M., Phutela R., Gulati S., Rahman A., Goel A., Afzal C., Paul D., Agrawal T., Pulimamidi V.K., Jalali S., Nishimasu H., Mariappan I., Nureki O., Maiti S., Chakraborty D.
PAM-flexible engineered FnCas9 variants for robust and ultra-precise genome editing and diagnostics.
Nat. Commun. 15:5471.1-5471.23(2024)

Cross-references
Cell line databases/resources hPSCreg; LVPEIi005-A-1
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1