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Cellosaurus SDQLCHi013-A (CVCL_YJ23)

[Text version]
Cell line name SDQLCHi013-A
Accession CVCL_YJ23
Resource Identification Initiative To cite this cell line use: SDQLCHi013-A (RRID:CVCL_YJ23)
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; 986; BCKDHA; Simple; p.Thr211Met (c.632C>T); ClinVar=VCV000093365; Zygosity=Heterozygous (PubMed=31775088).
  • Mutation; HGNC; 986; BCKDHA; Simple; p.Leu427_Ala428delinsPro (c.1280_1282delTGG); ClinVar=VCV000557742; Zygosity=Heterozygous (PubMed=31775088).
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 7D
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=31775088

Markers:
AmelogeninX,Y
CSF1PO10,11
D2S133818,19
D3S135815,16
D5S81810
D6S104318,20
D7S8208,10
D8S117912,15
D12S39117,18
D13S3179,10
D16S5399,11
D18S5116,19
D19S43314
D21S1130
FGA21,23
Penta D11,13
Penta E12,16
TH019
TPOX8,11
vWA16,18

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Publications

PubMed=31775088; DOI=10.1016/j.scr.2019.101585
Zhang H.-Y., Ma Y.-Y., Li X.-M., Yang X.-M., Li Y., Guan J.-Y., Dong R., Gai Z.-T., Liu Y.
An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene.
Stem Cell Res. 41:101585-101585(2019)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi013-A
Encyclopedic resources Wikidata; Q98129474
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number7