ID   IBMS-iPSC-029-01
AC   CVCL_QY30
DR   BCRC; SC81054
DR   BCRC; SC81055
DR   SKIP; SKIP005650
DR   SKIP; SKIP005651
DR   Wikidata; Q54897198
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; HGNC:2719; DDC; Simple; c.714+4A>T (IVS6+4A>T) (IVS6DS,A-T,+4); ClinVar=VCV000864024; Zygosity=Homozygous (BCRC=SC81054).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C142085; Aromatic L-amino-acid decarboxylase deficiency
DI   ORDO; Orphanet_35708; Aromatic L-amino acid decarboxylase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 10
//