ID   SKLRMe005-A
AC   CVCL_D0LP
DR   BioSamples; SAMEA111482387
DR   hPSCreg; SKLRMe005-A
DR   Wikidata; Q123033515
RX   PubMed=36805323;
CC   From: State Key Laboratory of Reproductive Medicine, Nanjing Medical University; Nanjing; China.
CC   Sequence variation: Mutation; HGNC; HGNC:4174; GATA6; Simple; p.Ser208Alafs*77 (c.620_647del); Zygosity=Heterozygous (PubMed=36805323).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C95834; Congenital heart disease
DI   ORDO; Orphanet_156532; Rare syndrome with cardiac malformations
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
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RX   PubMed=36805323; DOI=10.1016/j.scr.2023.103049;
RA   Li C.-Y., Dong X.-H., Lin Y.-T., Sun X.-P., Cai L.-B., Yang X.-Y.,
RA   Cui Y.-G., Qin L.-J., Wang J.;
RT   "Establishing a human embryonic stem cell line (SKLRMe005-A) from a
RT   blastocyst with congenital heart disease (CHD).";
RL   Stem Cell Res. 68:103049-103049(2023).
//