ID   FDCHi007-A
AC   CVCL_B5IK
SY   ips-104
DR   BioSamples; SAMEA10886707
DR   hPSCreg; FDCHi007-A
DR   Wikidata; Q110432803
RX   PubMed=35184021;
CC   From: Children's Hospital of Fudan University; Shanghai; China.
CC   Sequence variation: Mutation; HGNC; 2972; DNM1; Simple; p.Ala182Asp (c.545C>A); ClinVar=VCV000421787; Zygosity=Heterozygous; Note=De novo mutation (PubMed=35184021).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C185237; Developmental and epileptic encephalopathy 31
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 5
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RX   PubMed=35184021; DOI=10.1016/j.scr.2022.102709;
RA   Xu Y., Wang X.-H., Qiu T., Wang J., Wang Y., Wu B.-B., Zhou Y.-F.;
RT   "Generation of an induced pluripotent stem cell line (FDCHI007-A)
RT   derived from a patient with developmental and epileptic encephalopathy
RT   type 31 carrying heterozygous c.545C > A mutation in DNM1 gene.";
RL   Stem Cell Res. 60:102709-102709(2022).
//