ID   DHMCi008-A
AC   CVCL_C0JQ
SY   TUBA1A-1
DR   hPSCreg; DHMCi008-A
DR   Wikidata; Q112929452
RX   PubMed=35636247;
CC   From: Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine Heidelberg; Heidelberg; Germany.
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; HGNC:20766; TUBA1A; Simple; p.Ala174Val (c.521C>T); ClinVar=VCV000160159; Zygosity=Heterozygous; Note=De novo mutation (PubMed=35636247).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C148461; Lissencephaly 3
DI   ORDO; Orphanet_171680; Lissencephaly due to TUBA1A mutation
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=35636247; DOI=10.1016/j.scr.2022.102818;
RA   Schroter J., Syring H., Gohring G., Kolker S., Opladen T.,
RA   Hoffmann G.F., Syrbe S., Jung-Klawitter S.;
RT   "Generation of an induced pluripotent stem cell line (DHMCi008-A) from
RT   an individual with TUBA1A tubulinopathy.";
RL   Stem Cell Res. 62:102818-102818(2022).
//