ID   HIHRSi005-A
AC   CVCL_D6IE
SY   iPSC LD-12 5.3
DR   BioSamples; SAMEA115090590
DR   hPSCreg; HIHRSi005-A
DR   Wikidata; Q127381757
RX   PubMed=38437768;
CC   From: Hertie-Institut fur Klinische Hirnforschung; Tubingen; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 30074; POLR3A; Simple; p.Gln511Ter (c.1531C>T); Zygosity=Heterozygous (PubMed=38437768).
CC   Sequence variation: Mutation; HGNC; 30074; POLR3A; Simple; p.Tyr637Cysfs*14 (c.1909+22G>A); ClinVar=VCV000445922; Zygosity=Heterozygous (PubMed=38437768).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C206117; POLR3A-related spastic ataxia
DI   ORDO; Orphanet_685; Hereditary spastic paraplegia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   66Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38437768; DOI=10.1016/j.scr.2024.103363;
RA   Manibarathi K., Pham T., Hengel H., Synofzik M., Nagel M., Schule R.;
RT   "An iPSC model for POLR3A-associated spastic ataxia: Generation of
RT   three unrelated patient cell lines.";
RL   Stem Cell Res. 76:103363-103363(2024).
//