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Cellosaurus FUHSi001-A (CVCL_C0H5)

[Text version]
Cell line name FUHSi001-A
Synonyms GD09006
Accession CVCL_C0H5
Resource Identification Initiative To cite this cell line use: FUHSi001-A (RRID:CVCL_C0H5)
Comments From: Huashan Hospital of Fudan University; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 3603; FBN1; Simple; p.Pro620Ser (c.1858C>T); ClinVar=VCV000924443; Zygosity=Heterozygous (PubMed=35339882).
Disease Arterial dissection (NCIt: C99704)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 38Y
Category Induced pluripotent stem cell
Publications

PubMed=35339882; DOI=10.1016/j.scr.2022.102759
Lin A.-Q., Kang X.-C., Xu Y., Feng X.-C., Zhang S.-F., Zhao H.-C., Wu D.-H., Han X.
Human induced pluripotent stem cells derived from a patient with a mutation of FBN1c.1858C > T (p. Pro620Ser).
Stem Cell Res. 61:102759-102759(2022)

Cross-references
Cell line databases/resources hPSCreg; FUHSi001-A
Biological sample resources BioSamples; SAMEA11347817
Encyclopedic resources Wikidata; Q112929573
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4