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Cellosaurus SKLRMe005-A (CVCL_D0LP)

[Text version]
Cell line name SKLRMe005-A
Accession CVCL_D0LP
Resource Identification Initiative To cite this cell line use: SKLRMe005-A (RRID:CVCL_D0LP)
Comments From: State Key Laboratory of Reproductive Medicine, Nanjing Medical University; Nanjing; China.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:4174; GATA6; Simple; p.Ser208Alafs*77 (c.620_647del); Zygosity=Heterozygous (PubMed=36805323).
Disease Congenital heart disease (NCIt: C95834)
Rare syndrome with cardiac malformations (ORDO: Orphanet_156532)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Blastocyst stage
Category Embryonic stem cell
Publications

PubMed=36805323; DOI=10.1016/j.scr.2023.103049
Li C.-Y., Dong X.-H., Lin Y.-T., Sun X.-P., Cai L.-B., Yang X.-Y., Cui Y.-G., Qin L.-J., Wang J.
Establishing a human embryonic stem cell line (SKLRMe005-A) from a blastocyst with congenital heart disease (CHD).
Stem Cell Res. 68:103049-103049(2023)

Cross-references
Cell line databases/resources hPSCreg; SKLRMe005-A
Biological sample resources BioSamples; SAMEA111482387
Encyclopedic resources Wikidata; Q123033515
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3