Cellosaurus cell line EMCi127-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; EMCi127-A
Encyclopedic resources	Wikidata; Q98125962
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7