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Cellosaurus KMUGMCi001-A (CVCL_B0W8)

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Cell line name KMUGMCi001-A
Synonyms KMUGMCi001ACVRL1
Accession CVCL_B0W8
Resource Identification Initiative To cite this cell line use: KMUGMCi001-A (RRID:CVCL_B0W8)
Comments From: Kanazawa Medical University; Uchinada; Japan.
Population: Japanese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:175; ACVRL1; Simple; p.Phe259Lysfs*28 (c.772+3_772+4dup); Zygosity=Heterozygous (PubMed=35279593).
Disease Hereditary hemorrhagic telangiectasia (NCIt: C35064)
Hereditary hemorrhagic telangiectasia (ORDO: Orphanet_774)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 61Y
Category Induced pluripotent stem cell
Publications

PubMed=35279593; DOI=10.1016/j.scr.2022.102743
Hiroki Ura, Sumihito Togi, Yumiko Iwata, Mamoru Ozaki, Yo Niida;
Establishment of a human induced pluripotent stem cell line, KMUGMCi001-A, from a patient bearing a heterozygous c.772 + 3_772 + 4dup mutation in the ACVRL1 gene leading telangiectasia, hereditary hemorrhagic, type 2 (HHT2).
Stem Cell Res. 61:102743-102743(2022)

Cross-references
Cell line databases/resources hPSCreg; KMUGMCi001-A
Biological sample resources BioSamples; SAMEA10129972
Encyclopedic resources Wikidata; Q108820629
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number6