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Cellosaurus chHES-419 (CVCL_9T88)

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Cell line name chHES-419
Accession CVCL_9T88
Resource Identification Initiative To cite this cell line use: chHES-419 (RRID:CVCL_9T88)
Comments From: National Engineering and Research Center of Human Stem Cells; Changsha; China.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Gln1179Argfs*25 (c.3536delA); Zygosity=Heterozygous (PubMed=26987927).
Disease Marfan syndrome (NCIt: C34807)
Marfan syndrome (ORDO: Orphanet_558)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Blastocyst stage
Category Embryonic stem cell
Publications

PubMed=26987927; DOI=10.1016/j.scr.2015.10.012
Qing-Qing Yang, Xiao-Ying Zhou, Hao Zhou, Long Li, Juan Du, Guang-Xiu Lu, Ge Lin, Qi Ouyang;
Human embryonic stem cells derived from abnormal blastocyst donated by Marfan syndrome patient.
Stem Cell Res. 15:640-642(2015)

Cross-references
Encyclopedic resources Wikidata; Q54811999
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number13