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Cellosaurus CSSi018-A (CVCL_D6R4)

[Text version]
Cell line name CSSi018-A
Synonyms CSSi018-A (14192); 14192
Accession CVCL_D6R4
Resource Identification Initiative To cite this cell line use: CSSi018-A (RRID:CVCL_D6R4)
Comments From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
Population: Caucasian; Italian.
Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 30074; POLR3A; Simple; p.Phe601Tyr (c.1802T>A); ClinVar=VCV001304432; Zygosity=Heterozygous (PubMed=38852424).
  • Mutation; HGNC; 30074; POLR3A; Simple; p.Gly1358Arg (c.4072G>A); dbSNP=rs1404091496; Zygosity=Heterozygous (PubMed=38852424).
Disease 4H leukodystrophy (ORDO: Orphanet_289494)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=38852424; DOI=10.1016/j.scr.2024.103468
Casamassa A., Rotundo G., Ceresoni C., Turco E.M., Torrente I., Candido O., Nicita F., Tonduti D., Bertini E., Marano M., Ferrari D., Cereda C., Pennuto M., Vescovi A.L., Carelli S., Rosati J.D.
Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A).
Stem Cell Res. 78:103468-103468(2024)

Cross-references
Cell line databases/resources hPSCreg; CSSi018-A
Biological sample resources BioSamples; SAMEA115577322
Entry history
Entry creation10-Sep-2024
Last entry update10-Sep-2024
Version number1