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Cellosaurus SDQLCHi043-A (CVCL_A8NI)

[Text version]
Cell line name SDQLCHi043-A
Accession CVCL_A8NI
Resource Identification Initiative To cite this cell line use: SDQLCHi043-A (RRID:CVCL_A8NI)
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; 8654; PCCB; Simple; p.Arg111Ter (c.331C>T); ClinVar=VCV000553380; Zygosity=Heterozygous (PubMed=38394970).
  • Mutation; HGNC; 8654; PCCB; Simple; c.1498+2T>C; ClinVar=VCV000217895; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=38394970).
Disease Propionic acidemia (NCIt: C85030)
Propionic acidemia (ORDO: Orphanet_35)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 9D
Category Induced pluripotent stem cell
Publications

PubMed=38394970; DOI=10.1016/j.scr.2024.103352
Li Z.-L., Liu C., Xin H.-M., Lv Y.-Q., Gao M., Ma J., Liu N., Gai Z.-T., Liu Y.
Establishment of a non-integrated iPSC line (SDQLCHi043-A) from a male infant with propionic acidemia carrying compound heterozygote mutations in PCCB gene.
Stem Cell Res. 76:103352-103352(2024)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi043-A
Encyclopedic resources Wikidata; Q108821286
Entry history
Entry creation23-Sep-2021
Last entry update02-May-2024
Version number4