ID   CSSi014-A
AC   CVCL_B7SH
SY   CSSi014-A (9407); 9407; MPS II 9991 IPS cl H
DR   BioSamples; SAMEA14252991
DR   hPSCreg; CSSi014-A
DR   Wikidata; Q112929420
RX   PubMed=35759972;
CC   From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; 5389; IDS; Simple; p.Pro160Leu (c.479C>T); Zygosity=Hemizygous (PubMed=35759972).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61260; Hunter syndrome
DI   ORDO; Orphanet_580; Mucopolysaccharidosis type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   17Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35759972; DOI=10.1016/j.scr.2022.102846;
RA   Casamassa A., Zanetti A., Ferrari D., Lombardi I., Galluzzi G.,
RA   D'Avanzo F., Cipressa G., Bertozzi A., Torrente I., Vescovi A.L.,
RA   Tomanin R., Rosati J.;
RT   "Generation of an induced pluripotent stem cells line, CSSi014-A 9407,
RT   carrying the variant c.479C>T in the human iduronate 2-sulfatase
RT   (hIDS) gene.";
RL   Stem Cell Res. 63:102846-102846(2022).
//