ID   SZ-Marfan7
AC   CVCL_YL56
SY   SZ-Marfan7 PGD; Marfan#7
DR   NIHhESC; NIHhESC-20-0458
DR   Wikidata; Q98133019
WW   Provider; SZMC; -; https://www.szmc.org.il/UploadFiles/12_2016/HESC.pdf
CC   From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0458.
CC   Sequence variation: Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Gln1813Ter (c.5437C>T); ClinVar=VCV000042383; Zygosity=Heterozygous (NIHhESC=NIHhESC-20-0458).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C34807; Marfan syndrome
DI   ORDO; Orphanet_558; Marfan syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 19-12-19; Last updated: 10-04-25; Version: 11
//