ID   FMUPDCi001-A
AC   CVCL_B7E1
SY   ADAT3c.219dupA/c.587C>T iPSC
DR   BioSamples; SAMEA11423628
DR   hPSCreg; FMUPDCi001-A
DR   Wikidata; Q112929568
RX   PubMed=35405382;
CC   From: Fetal Medicine unit and Prenatal Diagnosis Center, Shanghai 1st Maternity and Infant Hospital of Tongji University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 25151; ADAT3; Simple; p.Arg58Thrfs (c.171dupA) (p.Arg74Thrfs, c.219dupA); dbSNP=rs1267546394; Zygosity=Heterozygous (PubMed=35405382).
CC   Sequence variation: Mutation; HGNC; 25151; ADAT3; Simple; p.Ala180Val (c.539C>T) (p.Ala196Val, c.587C>T); Zygosity=Heterozygous (PubMed=35405382).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C186789; Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies
DI   ORDO; Orphanet_363528; Intellectual disability-strabismus syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
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RX   PubMed=35405382; DOI=10.1016/j.scr.2022.102777;
RA   Hu X.-Y., Xiong S.-Y., Zhou X.-Y., Sun L.-M.;
RT   "Generation of a human induced pluripotent stem cell line FMUPDCi001-A
RT   from a patient with mental retardation, autosomal recessive 36 (MRT36)
RT   carrying the variants c.219dupA and c.587C > T in ADAT3.";
RL   Stem Cell Res. 61:102777-102777(2022).
//