Cellosaurus cell line LEIi004-A (CVCL

Cellosaurus LEIi004-A (CVCL_VE61)

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Cell line name

LEIi004-A

Synonyms

L4-A

Accession

CVCL_VE61

Resource Identification Initiative

To cite this cell line use: LEIi004-A (RRID:CVCL_VE61)

Comments

From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:2074; CLN3; Simple; p.Ala59Thr (c.175G>A); ClinVar=VCV000950856; Zygosity=Heterozygous (PubMed=29753273).
Mutation; HGNC; HGNC:2074; CLN3; Simple; c.461-280_677+382del (1.02-kb del); ClinVar=VCV000003552; Zygosity=Heterozygous (PubMed=29753273).

Disease

Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_VE94 (LEIi004-A-1)

Sex of cell

Female

Age at sampling

52Y