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Cellosaurus UCLi022-A (CVCL_C6T2)

[Text version]
Cell line name UCLi022-A
Synonyms CLN5c.1072-1073delTT; 546Pa
Accession CVCL_C6T2
Resource Identification Initiative To cite this cell line use: UCLi022-A (RRID:CVCL_C6T2)
Comments From: University College London; London; United Kingdom.
Population: Pakistani.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 2076; CLN5; Simple; p.Leu309Alafs*4 (c.925_926delTT) (p.Leu358Alafs*4, c.1072_1073delTT); ClinVar=VCV000056527; Zygosity=Homozygous (PubMed=38141358).
Disease Neuronal ceroid lipofuscinosis type 5 (NCIt: C192090)
CLN5 disease (ORDO: Orphanet_228360)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 9Y
Category Induced pluripotent stem cell

PubMed=38141358; DOI=10.1016/j.scr.2023.103291
Ofrim M., Little D., Nazari M., Minnis C.J., Devine M.J., Mole S.E., Gissen P., Lorvellec M.
Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations.
Stem Cell Res. 74:103291-103291(2024)

Cell line databases/resources hPSCreg; UCLi022-A
Biological sample resources BioSamples; SAMEA111342314
Encyclopedic resources Wikidata; Q117704910
Entry history
Entry creation21-Mar-2023
Last entry update02-May-2024
Version number3