ID   STR-I-203-CFTR
AC   CVCL_C085
SY   STR-203-CFTR; INSERMe008-A; INSRMe008-A
DR   hPSCreg; INSRMe008-A
DR   ISCR; 1264
DR   SKIP; SKIP002322
DR   Wikidata; Q54970611
RX   PubMed=20217271;
WW   https://www.agence-biomedecine.fr/IMG/pdf/inserm_str_i_203_cftr.pdf
CC   From: INSERM; Paris; France.
CC   Registration: French Agence de la Biomedecine; FE08-072-L1.
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Arg347Pro (c.1040G>C); ClinVar=VCV000007110; Zygosity=Heterozygous (PubMed=20217271).
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (PubMed=20217271).
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: 17
//
RX   PubMed=20217271; DOI=10.1007/s11626-010-9300-8;
RA   Tropel P., Tournois J., Come J., Varela C., Moutou C., Fragner P.,
RA   Cailleret M., Laabi Y., Peschanski M., Viville S.;
RT   "High-efficiency derivation of human embryonic stem cell lines
RT   following pre-implantation genetic diagnosis.";
RL   In Vitro Cell. Dev. Biol. Anim. 46:376-385(2010).
//