ID   SDQLCHi067-A
AC   CVCL_D4ZQ
DR   BioSamples; SAMEA115078188
DR   hPSCreg; SDQLCHi067-A
DR   Wikidata; Q127384271
RX   PubMed=38402847;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2714; DCX; Simple; p.Lys190Glu (c.568A>G); ClinVar=VCV000096552; Zygosity=Heterozygous (PubMed=38402847).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C205645; X-linked lissencephaly-1
DI   ORDO; Orphanet_2148; Lissencephaly type 1 due to doublecortin gene mutation
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   4Y1M
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38402847; DOI=10.1016/j.scr.2024.103356;
RA   Gao C.-L., Yang X.-M., Yang Y.-N., Liu N., Li Y., Liu Y., Gai Z.-T.;
RT   "Generation of an induced pluripotent stem cell line (SDQLCHi067-A)
RT   from a patient with subcortical band heterotopia harboring a
RT   heterozygous mutation in DCX gene.";
RL   Stem Cell Res. 76:103356-103356(2024).
//