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Cellosaurus EMCi128-A (CVCL_YZ95)

[Text version]

Cell line name EMCi128-A
Synonyms EMC128i-A; ACD874C9
Accession CVCL_YZ95
Resource Identification Initiative To cite this cell line use: EMCi128-A (RRID:CVCL_YZ95)
Comments From: Erasmus University Medical Center; Rotterdam; Netherlands.
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 3809; FOXF1; Simple; p.Phe85Ile (c.253T>A); Zygosity=Heterozygous (PubMed=32169823).
Disease Alveolar capillary dysplasia (NCIt: C98809)
Congenital alveolar capillary dysplasia (ORDO: Orphanet_210122)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling <1M
Category Induced pluripotent stem cell
Publications

PubMed=32169823; DOI=10.1016/j.scr.2020.101745
Slot E., de Klein A., Rottier R.J.
Generation of three iPSC lines from two patients with heterozygous FOXF1 mutations associated to alveolar capillary dysplasia with misalignment of the pulmonary veins.
Stem Cell Res. 44:101745-101745(2020)

Cross-references
Cell line databases/resources hPSCreg; EMCi128-A
Encyclopedic resources Wikidata; Q98125965
Entry history
Entry creation02-Jul-2020
Last entry update17-Mar-2022
Version number4