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Cellosaurus SMBCi010-A (CVCL_A1NC)

[Text version]
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; 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
Cui Y.-Z., Wang J., Zhang G.-L., Luan J., Han J.-X.
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)

Cross-references
Cell line databases/resources hPSCreg; SMBCi010-A
Biological sample resources BioSamples; SAMEA7543834
Encyclopedic resources Wikidata; Q102114923
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number7