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Cellosaurus chHES-427 (CVCL_AD57)

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Cell line name chHES-427
Accession CVCL_AD57
Resource Identification Initiative To cite this cell line use: chHES-427 (RRID:CVCL_AD57)
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:11117; SMN1; Unexplicit; Ex7del; Zygosity=Homozygous (PubMed=27345972).
Disease Werdnig-Hoffmann disease (NCIt: C98670)
Proximal spinal muscular atrophy type 1 (ORDO: Orphanet_83330)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Blastocyst stage
Category Embryonic stem cell
Publications

PubMed=27345972; DOI=10.1016/j.scr.2015.12.030
Ping-Yuan Xie, Hao Zhou, Xiao-Ying Zhou, Xiao-Meng Zhao, Juan Du, Guang-Xiu Lu, Ge Lin, Qi Ouyang;
Derivation of human embryonic stem cell from spinal muscular atrophy patient.
Stem Cell Res. 16:216-219(2016)

Cross-references
Encyclopedic resources Wikidata; Q54812003
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number12