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Cellosaurus CMUi001-A (CVCL_WG49)

[Text version]

Cell line name CMUi001-A
Synonyms FBN1-E2130K-iPSC
Accession CVCL_WG49
Resource Identification Initiative To cite this cell line use: CMUi001-A (RRID:CVCL_WG49)
Comments From: Anzhen Hospital, Capital Medical University; Beijing; China.
Population: Han Chinese.
Derived from sampling site: Skin; dermis.
Sequence variations Heterozygous for FBN1 p.Glu2130Lys (c.6388G>A) (PubMed=30870686).
Disease Marfan syndrome (NCIt: C34807)
Marfan syndrome (ORDO: Orphanet_558)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 25Y
Category Induced pluripotent stem cell

PubMed=30870686; DOI=10.1016/j.scr.2019.101414
Li X.-W., Dong T., Li Y., Wu F.-J., Lan F.
Generation of a human iPSC line from a patient with Marfan syndrome caused by mutation in FBN1.
Stem Cell Res. 36:101414-101414(2019)

Cell line databases/resources hPSCreg; CMUi001-A
Other Wikidata; Q93455820
Entry history
Entry creation24-May-2019
Last entry update02-Jul-2020
Version number3