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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; 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)
Congenital neuronal ceroid lipofuscinosis (ORDO: Orphanet_168486)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 9Y
Category Induced pluripotent stem cell
Publications

PubMed=38141358; DOI=10.1016/j.scr.2023.103291
Marisa Ofrim, Daniel Little, Mina Nazari, Christopher J. Minnis, Michael J. Devine, Sara Elizabeth Mole, Paul Gissen, Maelle Lorvellec;
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)

Cross-references
Cell line databases/resources hPSCreg; UCLi022-A
Biological sample resources BioSamples; SAMEA111342314
Encyclopedic resources Wikidata; Q117704910
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number5