ID   CSSi016-A
AC   CVCL_C3RC
SY   CSSi016-A (9938); 9938; PORA cl C
DR   BioSamples; SAMEA111417866
DR   hPSCreg; CSSi016-A
DR   Wikidata; Q116048805
RX   PubMed=36272304;
CC   From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; 10542; SBF1; Simple; p.Arg763His (c.2288G>A); ClinVar=VCV001065826; Zygosity=Heterozygous (PubMed=36272304).
CC   Sequence variation: Mutation; HGNC; 10542; SBF1; Simple; p.Gly1064Glu (c.3191G>A); ClinVar=VCV001120019; Zygosity=Heterozygous (PubMed=36272304).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C190871; Charcot-Marie-Tooth disease type 4B3
DI   ORDO; Orphanet_363981; Charcot-Marie-Tooth disease type 4B3
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 15-12-22; Last updated: 29-06-23; Version: 3
//
RX   PubMed=36272304; DOI=10.1016/j.scr.2022.102946;
RA   Turco E.M., Giada Giovenale A.M., Rotundo G., Mazzoni M.,
RA   Zanfardino P., Frezza K., Torrente I., Carletti R.M., Damiani D.,
RA   Santorelli F.M., Vescovi A.L., Petruzzella V., Rosati J.;
RT   "Generation and characterization of CSSi016-A (9938) human pluripotent
RT   stem cell line carrying two biallelic variants in MTMR5/SBF1 gene
RT   resulting in a case of severe CMT4B3.";
RL   Stem Cell Res. 65:102946-102946(2022).
//