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Cellosaurus EMCi128-A (CVCL_YZ95)

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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 site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 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
Evelien Slot, Annelies de Klein, Robbert J. Rottier;
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 update19-Dec-2024
Version number7