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Cellosaurus LVPEIi005-A-1 (CVCL_E4X9)

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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
Sundaram Acharya, Asgar Hussain Ansari, Prosad Kumar Das, Seiichi Hirano, Meghali Aich, Riya Rauthan, Sudipta Mahato, Savitri Maddileti, Sajal Sarkar, Manoj Kumar, Rhythm Phutela ...Show all 24 authors... , Sneha Gulati, Abdul Rahman, Arushi Goel, C. Afzal, Deepanjan Paul, Trupti Agrawal, Vinay Kumar Pulimamidi, Subhadra Jalali, Hiroshi Nishimasu, Indumathi Mariappan, Osamu Nureki, Souvik Maiti, Debojyoti Chakraborty; Show fewer authors
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