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Cellosaurus SDQLCHi006-A (CVCL_XJ78)

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Cell line name SDQLCHi006-A
Accession CVCL_XJ78
Resource Identification Initiative To cite this cell line use: SDQLCHi006-A (RRID:CVCL_XJ78)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:987; BCKDHB; Simple; p.Arg168Cys (c.502C>T); ClinVar=VCV000096586; Zygosity=Heterozygous (PubMed=31610500).
  • Mutation; HGNC; HGNC:987; BCKDHB; Simple; p.Thr322Ile (c.965C>T); Zygosity=Heterozygous (PubMed=31610500).
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 Male
Age at sampling 5D
Category Induced pluripotent stem cell
Publications

PubMed=31610500; DOI=10.1016/j.scr.2019.101579
Yue Li, Hai-Yan Zhang, Bei-Bei Yan, Yan-Yan Ma, Xiao-Meng Yang, Jing-Yun Guan, Yu-Qiang Lv, Min Gao, Jian Ma, Zhong-Tao Gai, Yi Liu;
An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene.
Stem Cell Res. 40:101579-101579(2019)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi006-A
Encyclopedic resources Wikidata; Q98129456
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number8