Cellosaurus cell line CMCi009-A (CVCL

Cross-references
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 site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; 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 Eun Jeong Ko, Sheng Cui, Yoo Jin Shin, Sun Woo Lim, Kang In Lee, Jae Young Lee, Chul Woo Yang, Myungshin Kim, Byung Ha Chung; 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)
Cell line databases/resources	hPSCreg; CMCi009-A
Biological sample resources	BioSamples; SAMEA7807657
Encyclopedic resources	Wikidata; Q105506659
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	6