Cellosaurus cell line SMBCi010-A (CVCL

Cross-references
Cell line name	SMBCi010-A
Accession	CVCL_A1NC
Resource Identification Initiative	To cite this cell line use: SMBCi010-A (RRID:CVCL_A1NC)
Comments	From: Shandong Medical Biotechnological Center; Jinan; China. Population: Chinese; Han. Derived from site: In situ; Bone marrow; UBERON=UBERON_0002371. Cell type: Mesenchymal stem cell of bone marrow; CL=CL_0002540.
Sequence variations	Mutation; HGNC; HGNC:3512; EXT1; Simple; c.1883+1G>T; ClinVar=VCV000961767; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=33360848).
Disease	Hereditary multiple exostoses (NCIt: C5183) Multiple osteochondromas (ORDO: Orphanet_321)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	12Y
Category	Induced pluripotent stem cell
Publications	PubMed=33360848; DOI=10.1016/j.scr.2020.102111 Ya-Zhou Cui, Jing Wang, Geng-Lin Zhang, Jing Luan, Jin-Xiang Han; Generation of an induced pluripotent stem cell line SMBCi010-A from a male with multiple osteochondroma carrying a EXT1 mutation. Stem Cell Res. 50:102111-102111(2021)
Cell line databases/resources	hPSCreg; SMBCi010-A
Biological sample resources	BioSamples; SAMEA7543834
Encyclopedic resources	Wikidata; Q102114923
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	8