ID   CSSi019-A
AC   CVCL_E3CM
SY   CSSi019-A (14432); 14432; A1150 Asymptomatic cl 7
DR   BioSamples; SAMEA115741727
DR   hPSCreg; CSSi019-A
RX   PubMed=39191178;
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 36 repeats (PubMed=39191178).
CC   Donor information: At sampling donor was not affected with amyotrophic lateral sclerosis.
CC   Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   76Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
//
RX   PubMed=39191178; DOI=10.1016/j.scr.2024.103540;
RA   Ruotolo, Giorgia
RA   D'Anzi, Angela
RA   Giovenale, Angela Maria Giada
RA   Giacometti, C.
RA   Ferrari, Daniela
RA   Vulcano, Edvige
RA   D'Asdia, Maria Cecilia
RA   Lattante, Serena
RA   Sabatelli, Mario
RA   Codazzi, Franca
RA   Consalez, Gian Giacomo
RA   Marano, Massimo
RA   Di Lazzaro, Vincenzo
RA   Pennuto, Maria
RA   Vescovi, Angelo Luigi
RA   Rosati, Jessica Diana
RT   "Induced pluripotent stem cell production (CSSi019-A)(14432) from an
RT   asymptomatic subject carrying a expansion of C9orf72 gene.";
RL   Stem Cell Res. 81:103540-103540(2024).
//