ID   CMCi009-A
AC   CVCL_A4EN
SY   CMCi009; CMC-BHD-001
DR   BioSamples; SAMEA7807657
DR   hPSCreg; CMCi009-A
DR   Wikidata; Q105506659
RX   PubMed=33540282;
CC   From: The Catholic University of Korea; Seoul; South Korea.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; 27310; FLCN; Simple; p.His429Thrfs*39 (c.1285delC); ClinVar=VCV000003364; Zygosity=Heterozygous (PubMed=33540282).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C28244; Birt-Hogg-Dube syndrome
DI   ORDO; Orphanet_122; Birt-Hogg-Dube syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   42Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33540282; DOI=10.1016/j.scr.2021.102215;
RA   Ko E.J., Cui S., Shin Y.J., Lim S.W., Lee K.I., Lee J.Y., Yang C.W.,
RA   Kim M., Chung B.H.;
RT   "Generation of the human induced pluripotent stem cell lines
RT   (CMCi009-A) from a patient with Birt-Hogg-Dube syndrome (BHD) with
RT   heterozygous frameshift deletion mutation c.1285delC of the FLCN
RT   gene.";
RL   Stem Cell Res. 51:102215-102215(2021).
//