ID   UCLi021-A
AC   CVCL_C6T1
SY   CLN5c.335G>A;619T>C; 484Pb
DR   BioSamples; SAMEA111341775
DR   hPSCreg; UCLi021-A
DR   Wikidata; Q117704909
RX   PubMed=38141358;
CC   From: University College London; London; United Kingdom.
CC   Population: Caucasian; British.
CC   Sequence variation: Mutation; HGNC; 2076; CLN5; Simple; p.Arg63His (c.188G>A) (p.Arg112His, c.335G>A); ClinVar=VCV000002567; Zygosity=Heterozygous (PubMed=38141358).
CC   Sequence variation: Mutation; HGNC; 2076; CLN5; Simple; p.Trp158Arg (c.472T>C) (p.Trp207Arg, c.619T>C); ClinVar=VCV001302670; Zygosity=Heterozygous (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   Female
AG   7Y
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).
//