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Cellosaurus HIHRSi005-A (CVCL_D6IE)

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Cell line name HIHRSi005-A
Synonyms iPSC LD-12 5.3
Accession CVCL_D6IE
Resource Identification Initiative To cite this cell line use: HIHRSi005-A (RRID:CVCL_D6IE)
Comments From: Hertie-Institut fur Klinische Hirnforschung; Tubingen; Germany.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:30074; POLR3A; Simple; p.Gln511Ter (c.1531C>T); Zygosity=Heterozygous (PubMed=38437768).
  • Mutation; HGNC; HGNC:30074; POLR3A; Simple; p.Tyr637Cysfs*14 (c.1909+22G>A); ClinVar=VCV000445922; Zygosity=Heterozygous (PubMed=38437768).
Disease POLR3A-related spastic ataxia (NCIt: C206117)
Hereditary spastic paraplegia (ORDO: Orphanet_685)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 66Y
Category Induced pluripotent stem cell
Publications

PubMed=38437768; DOI=10.1016/j.scr.2024.103363
Kalaivani Manibarathi, Tam Pham, Holger Hengel, Matthis Synofzik, Maike Nagel, Rebecca Schule;
An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines.
Stem Cell Res. 76:103363-103363(2024)

Cross-references
Cell line databases/resources hPSCreg; HIHRSi005-A
Biological sample resources BioSamples; SAMEA115090590
Encyclopedic resources Wikidata; Q127381757
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3