ID   WAe009-A-53
AC   CVCL_A7HE
SY   EMe-TPint5GCC1; WA09 TPP1 INT5 SA Hom C1; BROWNe010-A-53
DR   hPSCreg; WAe009-A-53
DR   Wikidata; Q107117428
CC   From: Brown University; Providence; USA.
CC   Sequence variation: Mutation; HGNC; 2073; TPP1; Simple_edited; c.509-1G>C (IVS5-1G>C); ClinVar=VCV000002644; Zygosity=Homozygous; Note=By CRISPR/Cas9.
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C85864; Neuronal ceroid lipofuscinosis type 2
DI   ORDO; Orphanet_228349; CLN2 disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_9773 ! WA09
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
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