ID   VUB04_CF
AC   CVCL_9841
SY   VUBe004-A
DR   hPSCreg; VUBe004-A
DR   ISCR; 248
DR   SKIP; SKIP001827
DR   Wikidata; Q54993388
RX   PubMed=16284066;
CC   From: Vrije Universiteit Brussel; Brussels; Belgium.
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous (PubMed=16284066).
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=16284066; DOI=10.1093/humrep/dei345;
RA   Mateizel I., De Temmerman N., Ullmann U., Cauffman G., Sermon K.,
RA   Van de Velde H., De Rycke M., Degreef E., Devroey P., Liebaers I.,
RA   Van Steirteghem A.;
RT   "Derivation of human embryonic stem cell lines from embryos obtained
RT   after IVF and after PGD for monogenic disorders.";
RL   Hum. Reprod. 21:503-511(2006).
//