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Cellosaurus SDQLCHi033-A (CVCL_A3ZD)

[Text version]

Cell line name SDQLCHi033-A
Accession CVCL_A3ZD
Resource Identification Initiative To cite this cell line use: SDQLCHi033-A (RRID:CVCL_A3ZD)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 987; BCKDHB; Simple; p.Pro366Gln (c.1097C>A); Zygosity=Homozygous (PubMed=33388706).
Disease Maple syrup urine disease (NCIt: C34806)
Maple syrup urine disease (ORDO: Orphanet_511)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 11D
Category Induced pluripotent stem cell
Publications

PubMed=33388706; DOI=10.1016/j.scr.2020.102146
Wang B., Liu C., Zhang H.-Y., Gai Z.-T., Liu Y.
An induced pluripotent stem cell line (SDQLCHi033-A) derived from a patient with maple syrup urine disease type Ib carrying a homozygous mutation in BCKDHB gene.
Stem Cell Res. 50:102146-102146(2021)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi033-A
Encyclopedic resources Wikidata; Q105511012
Entry history
Entry creation12-Jan-2021
Last entry update20-May-2021
Version number2