ID   UCLi022-A
AC   CVCL_C6T2
SY   CLN5c.1072-1073delTT; 546Pa
DR   BioSamples; SAMEA111342314
DR   hPSCreg; UCLi022-A
DR   Wikidata; Q117704910
RX   PubMed=38141358;
CC   From: University College London; London; United Kingdom.
CC   Population: Pakistani.
CC   Sequence variation: Mutation; HGNC; 2076; CLN5; Simple; p.Leu309Alafs*4 (c.925_926delTT) (p.Leu358Alafs*4, c.1072_1073delTT); ClinVar=VCV000056527; Zygosity=Homozygous (PubMed=38141358).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C192090; Neuronal ceroid lipofuscinosis type 5
DI   ORDO; Orphanet_228360; CLN5 disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 02-05-24; Version: 3
//
RX   PubMed=38141358; DOI=10.1016/j.scr.2023.103291;
RA   Ofrim M., Little D., Nazari M., Minnis C.J., Devine M.J., Mole S.E.,
RA   Gissen P., Lorvellec M.;
RT   "Characterization of two human induced pluripotent stem cell lines
RT   derived from Batten disease patient fibroblasts harbouring CLN5
RT   mutations.";
RL   Stem Cell Res. 74:103291-103291(2024).
//