ID   SDQLCHi046-A
AC   CVCL_C1WF
DR   hPSCreg; SDQLCHi046-A
DR   Wikidata; Q114312984
RX   PubMed=36481505;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 13315; HDAC8; Simple; p.Glu186Lys (c.556G>A); ClinVar=VCV000211142; Zygosity=Hemizygous (PubMed=36481505).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75016; Cornelia de Lange syndrome
DI   ORDO; Orphanet_199; Cornelia de Lange syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2D
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
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RX   PubMed=36481505; DOI=10.1016/j.scr.2022.102984;
RA   Li Z.-L., Liu C., Xin H.-M., Yang Y.-N., Wang Y.-X., Niu S.-S.,
RA   Gao C.-L., Gai Z.-T., Liu Y.;
RT   "Establishment of a transgene-free iPS cell line (SDQLCHi046-A) from a
RT   young patient bearing a HDAC8 mutation and suffering from Cornelia de
RT   Lange syndrome.";
RL   Stem Cell Res. 66:102984-102984(2023).
//