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Cellosaurus EMCi127-A (CVCL_YZ93)

[Text version]
Cell line name EMCi127-A
Synonyms EMC127i-A; ACD871C4
Accession CVCL_YZ93
Resource Identification Initiative To cite this cell line use: EMCi127-A (RRID:CVCL_YZ93)
Comments From: Erasmus University Medical Center; Rotterdam; Netherlands.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 3809; FOXF1; Simple; p.Leu56Val (c.166C>G); ClinVar=VCV000869491; 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)
Originate from same individual CVCL_YZ94 ! EMCi127-B
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; EMCi127-A
Encyclopedic resources Wikidata; Q98125962
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number6