ID   CSSi017-A
AC   CVCL_D6R3
SY   CSSi017-A (12862); 12862; 1150 cl 4
DR   BioSamples; SAMEA114594441
DR   hPSCreg; CSSi017-A
RX   PubMed=38613988;
CC   From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Heterozygous; Note=Has 56 repeats (PubMed=38613988).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168756; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_275872; Frontotemporal dementia with motor neuron disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-04-25; Version: 3
//
RX   PubMed=38613988; DOI=10.1016/j.scr.2024.103412;
RA   Ruotolo, Giorgia
RA   D'Anzi, Angela
RA   Casamassa, Alessia
RA   Mazzoni, Martina
RA   Ferrari, Daniela
RA   Lombardi, Ivan
RA   Carletti, Rose Mary
RA   D'Asdia, Maria Cecilia
RA   Torrente, Isabella
RA   Frezza, Katia
RA   Lattante, Serena
RA   Sabatelli, Mario
RA   Pennuto, Maria
RA   Vescovi, Angelo Luigi
RA   Rosati, Jessica Diana
RT   "Generation of induced pluripotent stem cells (CSSi017-A) (12862) from
RT   an ALS patient carrying a repeat expansion in the C9orf72 gene.";
RL   Stem Cell Res. 77:103412-103412(2024).
//