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Cellosaurus CMCi009-A (CVCL_A4EN)

[Text version]

Cell line name CMCi009-A
Synonyms CMCi009; CMC-BHD-001
Accession CVCL_A4EN
Resource Identification Initiative To cite this cell line use: CMCi009-A (RRID:CVCL_A4EN)
Comments From: The Catholic University of Korea, Seoul; South Korea.
Population: Asian.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 27310; FLCN; Simple; p.His429Thrfs*39 (c.1285delC); ClinVar=VCV000003364; Zygosity=Heterozygous (PubMed=33540282).
Disease Birt-Hogg-Dube syndrome (NCIt: C28244)
Birt-Hogg-Dube syndrome (ORDO: Orphanet_122)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 42Y
Category Induced pluripotent stem cell
Publications

PubMed=33540282; DOI=10.1016/j.scr.2021.102215
Ko E.J., Cui S., Shin Y.J., Lim S.W., Lee K.I., Lee J.Y., Yang C.W., Kim M., Chung B.H.
Generation of the human induced pluripotent stem cell lines (CMCi009-A) from a patient with Birt-Hogg-Dube syndrome (BHD) with heterozygous frameshift deletion mutation c.1285delC of the FLCN gene.
Stem Cell Res. 51:102215-102215(2021)

Cross-references
Cell line databases/resources hPSCreg; CMCi009-A
Biological sample resources BioSamples; SAMEA7807657
Other Wikidata; Q105506659
Entry history
Entry creation12-Jan-2021
Last entry update20-May-2021
Version number2