ID   SMBCi010-A
AC   CVCL_A1NC
DR   BioSamples; SAMEA7543834
DR   hPSCreg; SMBCi010-A
DR   Wikidata; Q102114923
RX   PubMed=33360848;
CC   From: Shandong Medical Biotechnological Center; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 3512; EXT1; Simple; c.1883+1G>T; ClinVar=VCV000961767; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=33360848).
CC   Derived from site: In situ; Bone marrow; UBERON=UBERON_0002371.
CC   Cell type: Mesenchymal stem cell of bone marrow; CL=CL_0002540.
DI   NCIt; C5183; Hereditary multiple exostoses
DI   ORDO; Orphanet_321; Multiple osteochondromas
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 7
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RX   PubMed=33360848; DOI=10.1016/j.scr.2020.102111;
RA   Cui Y.-Z., Wang J., Zhang G.-L., Luan J., Han J.-X.;
RT   "Generation of an induced pluripotent stem cell line SMBCi010-A from a
RT   male with multiple osteochondroma carrying a EXT1 mutation.";
RL   Stem Cell Res. 50:102111-102111(2021).
//