ID   NCBL4.c33
AC   CVCL_C0P7
DR   Wikidata; Q112930160
RX   PubMed=36009452;
CC   From: Neuronal Circuits and Behavior Lab, Center for Neuroscience and Cell Biology; Coimbra; Portugal.
CC   Population: Caucasian; Portuguese.
CC   Sequence variation: Mutation; HGNC; HGNC:4601; GRN; Simple; p.Ser301Cysfs*61 (c.900_901dupGT); ClinVar=VCV003031059; Zygosity=Heterozygous (PubMed=36009452).
CC   Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C188214; Neuronal ceroid lipofuscinosis type 11
DI   ORDO; Orphanet_168486; Congenital neuronal ceroid lipofuscinosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C0P6 ! NCBL4.c27
SX   Female
AG   34Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 7
//
RX   PubMed=36009452; DOI=10.3390/biomedicines10081905; PMCID=PMC9405606;
RA   Oliveira A.R., Martins S., Cammarata G., Martins M., Cardoso A.M.,
RA   Almeida M.R., do Carmo Macario M., Santana I., Peca J., Cardoso A.L.;
RT   "Generation and characterization of novel iPSC lines from a Portuguese
RT   family bearing heterozygous and homozygous GRN mutations.";
RL   Biomedicines 10:1905.1-1905.17(2022).
//