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Cellosaurus SMBCi019-A (CVCL_C0JP)

[Text version]
Cell line name SMBCi019-A
Accession CVCL_C0JP
Resource Identification Initiative To cite this cell line use: SMBCi019-A (RRID:CVCL_C0JP)
Comments From: Shandong Medical Biotechnological Center; Jinan; China.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; 24525; MMACHC; Simple; p.Trp203Ter (c.609G>A); ClinVar=VCV000030800; Zygosity=Heterozygous (PubMed=35660814).
Disease Methylmalonic aciduria and homocystinuria, cblC type (NCIt: C142174)
Methylmalonic acidemia with homocystinuria, type cblC (ORDO: Orphanet_79282)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=35660814; DOI=10.1016/j.scr.2022.102821
Luan J., Zou H., Cui Y.-Z., Wang J., Han Z.-Z., Zhang G.-L., Han J.-X.
Generation of induced pluripotent stem cells named SMBCi019-A from a methylmalonic acidemia patient carrying the MMACHC mutations.
Stem Cell Res. 62:102821-102821(2022)

Cross-references
Cell line databases/resources hPSCreg; SMBCi019-A
Encyclopedic resources Wikidata; Q112930415
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4