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Cellosaurus UCLi021-A (CVCL_C6T1)

[Text version]
Cell line name UCLi021-A
Synonyms CLN5c.335G>A;619T>C; 484Pb
Accession CVCL_C6T1
Resource Identification Initiative To cite this cell line use: UCLi021-A (RRID:CVCL_C6T1)
Comments From: University College London; London; United Kingdom.
Population: Caucasian; British.
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.Arg63His (c.188G>A) (p.Arg112His, c.335G>A); ClinVar=VCV000002567; Zygosity=Heterozygous (PubMed=38141358).
  • Mutation; HGNC; HGNC:2076; CLN5; Simple; p.Trp158Arg (c.472T>C) (p.Trp207Arg, c.619T>C); ClinVar=VCV001302670; Zygosity=Heterozygous (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 Female
Age at sampling 7Y
Category Induced pluripotent stem cell
Publications

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)

Cross-references
Cell line databases/resources hPSCreg; UCLi021-A
Biological sample resources BioSamples; SAMEA111341775
Encyclopedic resources Wikidata; Q117704909
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number5