ID   WAe009-A-98
AC   CVCL_C9GZ
SY   CtBP1 991C>T; FAUe010-A-98
DR   BioSamples; SAMEA111264470
DR   hPSCreg; WAe009-A-98
DR   Wikidata; Q123033859
CC   Sequence variation: Mutation; HGNC; 2494; CTBP1; Simple_edited; p.Arg331Trp (c.991C>T); ClinVar=VCV000225758; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (hPSCreg=WAe009-A-98).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C192635; Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_9773 ! WA09
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
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