ID   CSSi018-A
AC   CVCL_D6R4
SY   CSSi018-A (14192); 14192
DR   BioSamples; SAMEA115577322
DR   hPSCreg; CSSi018-A
RX   PubMed=38852424;
CC   From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; 30074; POLR3A; Simple; p.Phe601Tyr (c.1802T>A); ClinVar=VCV001304432; Zygosity=Heterozygous (PubMed=38852424).
CC   Sequence variation: Mutation; HGNC; 30074; POLR3A; Simple; p.Gly1358Arg (c.4072G>A); dbSNP=rs1404091496; Zygosity=Heterozygous (PubMed=38852424).
CC   Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   ORDO; Orphanet_289494; 4H leukodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=38852424; DOI=10.1016/j.scr.2024.103468;
RA   Casamassa A., Rotundo G., Ceresoni C., Turco E.M., Torrente I.,
RA   Candido O., Nicita F., Tonduti D., Bertini E., Marano M., Ferrari D.,
RA   Cereda C., Pennuto M., Vescovi A.L., Carelli S., Rosati J.D.;
RT   "Production of an induced pluripotent stem cell line CSSi018-A (14192)
RT   from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying
RT   biallelic variants of POLR3A (c.1802 T > A; c.4072G > A).";
RL   Stem Cell Res. 78:103468-103468(2024).
//