ID   CHOPi007-A
AC   CVCL_B3NS
SY   LD_0853.0
DR   BioSamples; SAMEA9693342
DR   hPSCreg; CHOPi007-A
DR   Wikidata; Q110432720
RX   PubMed=37003180;
CC   From: Children's Hospital of Philadelphia; Philadelphia; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 20774; TUBB4A; Simple; p.Asp249Asn (c.745G>A); ClinVar=VCV000050985; Zygosity=Heterozygous (PubMed=37003180).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C183310; Hypomyelinating leukodystrophy-6
DI   ORDO; Orphanet_139441; Hypomyelination with atrophy of basal ganglia and cerebellum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 05-10-23; Version: 5
//
RX   PubMed=37003180; DOI=10.1016/j.scr.2023.103083;
RA   Almad A.A., Garcia L., Takanohashi A., Gagne A.L., Yang W.-L.,
RA   Maguire J.A., French D.L., Vanderver A.;
RT   "Generation of three induced pluripotent stem cell lines from
RT   individuals with hypomyelination with atrophy of basal ganglia and
RT   cerebellum caused by a c.745G>A (p.D249N) autosomal dominant mutation
RT   in TUBB4A.";
RL   Stem Cell Res. 69:103083-103083(2023).
//