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 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)
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