ID   CHDTRi002-B
AC   CVCL_E3T2
SY   HT954B; iSP5.2.1B
DR   BioSamples; SAMEA115989793
DR   hPSCreg; CHDTRi002-B
RX   PubMed=39317061;
CC   From: Division of Translational Research, NICHD, NIH; Bethesda; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2074; CLN3; Simple; p.Arg334His (c.1001G>A); ClinVar=VCV000056244; Zygosity=Heterozygous (PubMed=39317061).
CC   Sequence variation: Mutation; HGNC; HGNC:2074; CLN3; Simple; p.Arg405Trp (c.1213C>T); ClinVar=VCV000418137; Zygosity=Heterozygous (PubMed=39317061).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61258; Neuronal ceroid lipofuscinosis type 3
DI   ORDO; Orphanet_168486; Congenital neuronal ceroid lipofuscinosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   17Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=39317061; DOI=10.1016/j.scr.2024.103563;
RA   Dwojak E., O'mard D., Zou J.-Z., Wassif C.A., Burkett S.S., Eckhaus M.,
RA   Faucz F.R., Padilla C., Villasmil R., Zheng W., Dang Do A.N.;
RT   "Six induced pluripotent stem cell lines from fibroblasts of
RT   individuals with CLN3-related conditions.";
RL   Stem Cell Res. 81:103563-103563(2024).
//