ID   ULBe005-A
AC   CVCL_9009
SY   ERAMUC-2; ERAMUC2
DR   hPSCreg; ULBe005-A
DR   ISCR; 1567
DR   SKIP; SKIP001887
DR   Wikidata; Q54990726
RX   PubMed=19549452;
CC   From: Universite Libre de Bruxelles; Brussels; Belgium.
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (PubMed=19549452).
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Glu585Ter (c.1753G>T); ClinVar=VCV000053374; Zygosity=Heterozygous (PubMed=19549452).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 29-06-23; Version: 18
//
RX   PubMed=19549452; DOI=10.1016/S1472-6483(10)60018-1;
RA   Deleu S., Gonzalez-Merino E., Gaspard N., Nguyen T.M.U.,
RA   Vanderhaeghen P., Lagneaux L., Toungouz M., Englert Y., Devreker F.;
RT   "Human cystic fibrosis embryonic stem cell lines derived on placental
RT   mesenchymal stromal cells.";
RL   Reprod. BioMed. Online 18:704-716(2009).
//