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Cellosaurus HIHRSi004-A (CVCL_D6ID)

[Text version]
Cell line name HIHRSi004-A
Synonyms iPSC SP-184 4.1
Accession CVCL_D6ID
Resource Identification Initiative To cite this cell line use: HIHRSi004-A (RRID:CVCL_D6ID)
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; 30074; POLR3A; Simple; p.Tyr637Cysfs*14 (c.1909+22G>A); ClinVar=VCV000445922; Zygosity=Heterozygous (PubMed=38437768).
  • Mutation; HGNC; 30074; POLR3A; Simple; p.Val1315Alafs*7 (c.3944_3945delTG); ClinVar=VCV000986804; 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 44Y
Category Induced pluripotent stem cell
Publications

PubMed=38437768; DOI=10.1016/j.scr.2024.103363
Manibarathi K., Pham T., Hengel H., Synofzik M., Nagel M., Schule R.
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; HIHRSi004-A
Biological sample resources BioSamples; SAMEA115084270
Encyclopedic resources Wikidata; Q127381756
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2