ID   RCMGi012-A
AC   CVCL_C9HD
SY   P11L3
DR   BioSamples; SAMEA113401540
DR   hPSCreg; RCMGi012-A
DR   Wikidata; Q123033343
RX   PubMed=38006675;
CC   From: Research Centre for Medical Genetics; Moscow; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 714; ARSB; Simple; p.Trp322Ter (c.966G>A); ClinVar=VCV000559831; Zygosity=Heterozygous (PubMed=38006675).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61264; Maroteaux-Lamy syndrome
DI   ORDO; Orphanet_583; Mucopolysaccharidosis type 6
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
//
RX   PubMed=38006675; DOI=10.1016/j.scr.2023.103259;
RA   Kondrateva E.V., Grigorieva O.V., Panchuk I.O., Bychkov I.O.,
RA   Zakharova E.Y., Tabakov V.Y., Pozhitnova V.O., Voronina E.S.,
RA   Shchagina O.A., Lavrov A.V., Smirnikhina S.A., Kutsev S.I.;
RT   "Generation of induced pluripotent stem cell line (RCMGi012-A) from
RT   fibroblasts of patient with mucopolysaccharidosis type VI.";
RL   Stem Cell Res. 73:103259-103259(2023).
//