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Cellosaurus QDMHi001-A (CVCL_A8MZ)

[Text version]
Cell line name QDMHi001-A
Synonyms PBMC20190809-01 SeVC5
Accession CVCL_A8MZ
Resource Identification Initiative To cite this cell line use: QDMHi001-A (RRID:CVCL_A8MZ)
Comments From: Qingdao Municipal Hospital; Qingdao; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 3603; FBN1; Simple; p.Cys2258Arg (c.6772T>C); ClinVar=VCV000379489; Zygosity=Heterozygous (PubMed=34087733).
Disease Marfan syndrome (NCIt: C34807)
Marfan syndrome (ORDO: Orphanet_558)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 33Y
Category Induced pluripotent stem cell

PubMed=34087733; DOI=10.1016/j.scr.2021.102390
Wu S.-H., Zhang Z.-D., Wang L., Yu J.
Generation of a human iPSC line QDMHi001-A from a patient with Marfan syndrome carrying a heterozygous c.6772 T > C variant in FBN1.
Stem Cell Res. 54:102390-102390(2021)

Cell line databases/resources hPSCreg; QDMHi001-A
Biological sample resources BioSamples; SAMEA8268544
Encyclopedic resources Wikidata; Q108821196
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number4