Cellosaurus cell line HIHRSi004-A (CVCL

Cross-references
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; HGNC:30074; POLR3A; Simple; p.Tyr637Cysfs14 (c.1909+22G>A); ClinVar=VCV000445922; Zygosity=Heterozygous (PubMed=38437768). Mutation; HGNC; HGNC:30074; POLR3A; Simple; p.Val1315Alafs7 (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)
Cell line databases/resources	hPSCreg; HIHRSi004-A
Biological sample resources	BioSamples; SAMEA115084270
Encyclopedic resources	Wikidata; Q127381756
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3