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, Ewelina
RA   O'mard, Danielle
RA   Zou, Ji-Zhong
RA   Wassif, Christopher A.
RA   Burkett, Sandra Sczerba
RA   Eckhaus, Michael
RA   Faucz, Fabio Rueda
RA   Padilla, Cameron
RA   Villasmil, Rafael
RA   Zheng, Wei
RA   Dang Do, An 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).
//