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; 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_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=38613988; DOI=10.1016/j.scr.2024.103412;
RA   Ruotolo G., D'Anzi A., Casamassa A., Mazzoni M., Ferrari D.,
RA   Lombardi I., Carletti R.M., D'Asdia M.C., Torrente I., Frezza K.,
RA   Lattante S., Sabatelli M., Pennuto M., Vescovi A.L., Rosati J.D.;
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).
//