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Cellosaurus STR-I-203-CFTR (CVCL_C085)

[Text version]
Cell line name STR-I-203-CFTR
Synonyms STR-203-CFTR; INSERMe008-A; INSRMe008-A
Accession CVCL_C085
Resource Identification Initiative To cite this cell line use: STR-I-203-CFTR (RRID:CVCL_C085)
Comments From: INSERM; Paris; France.
Registration: French Agence de la Biomedecine; FE08-072-L1.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; 1884; CFTR; Simple; p.Arg347Pro (c.1040G>C); ClinVar=VCV000007110; Zygosity=Heterozygous (PubMed=20217271).
  • Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (PubMed=20217271).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Blastocyst stage
Category Embryonic stem cell
Web pages https://www.agence-biomedecine.fr/IMG/pdf/inserm_str_i_203_cftr.pdf
Publications

PubMed=20217271; DOI=10.1007/s11626-010-9300-8
Tropel P., Tournois J., Come J., Varela C., Moutou C., Fragner P., Cailleret M., Laabi Y., Peschanski M., Viville S.
High-efficiency derivation of human embryonic stem cell lines following pre-implantation genetic diagnosis.
In Vitro Cell. Dev. Biol. Anim. 46:376-385(2010)

Cross-references
Cell line databases/resources hPSCreg; INSRMe008-A
ISCR; 1264
SKIP; SKIP002322
Encyclopedic resources Wikidata; Q54970611
Entry history
Entry creation06-Jun-2012
Last entry update29-Jun-2023
Version number17