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Cellosaurus NFHHMUi001-A (CVCL_C1V1)

[Text version]
Cell line name NFHHMUi001-A
Accession CVCL_C1V1
Resource Identification Initiative To cite this cell line use: NFHHMUi001-A (RRID:CVCL_C1V1)
Comments From: Department of Neurosurgery, First Affiliated Hospital of Harbin Medical University; Harbin; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1573; KRIT1; Simple; p.Thr545fs*6 (c.1635delA); Zygosity=Heterozygous (PubMed=35716468).
Disease Cerebral cavernous malformation (NCIt: C84626)
Familial cerebral cavernous malformation (ORDO: Orphanet_221061)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 44Y
Category Induced pluripotent stem cell
Publications

PubMed=35716468; DOI=10.1016/j.scr.2022.102838
Sun R.-H., Liu Q., Mu L., Wang A.-W., Zhao J.-J., Long Y., Liu L.
A familiar cerebral cavernous malformations (FCCMs) patient with CCM1 deletion-frameshift mutation generates an induced pluripotent stem cell line (NFHHMUi001-A).
Stem Cell Res. 63:102838-102838(2022)

Cross-references
Cell line databases/resources hPSCreg; NFHHMUi001-A
Biological sample resources BioSamples; SAMEA13602499
Encyclopedic resources Wikidata; Q114312505
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number5