ID   MPIi007-A
DR   hPSCreg; MPIi007-A
DR   Wikidata; Q107116394
RX   PubMed=32950023;
CC   From: Max Planck Institute for Molecular Biomedicine; Munster; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 713; ARSA; Simple; p.Thr393Ser (c.1178C>G) (p.Thr391Ser, c.1172C>G); ClinVar=VCV000021184; Zygosity=Heterozygous (PubMed=32950023).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=32950023
ST   Amelogenin: X,Y
ST   CSF1PO: 11,13
ST   D13S317: 12,13
ST   D16S539: 9,13
ST   D18S51: 12
ST   D19S433: 15
ST   D21S11: 30.2,31.2
ST   D2S1338: 19,20
ST   D3S1358: 17,18
ST   D5S818: 11,12
ST   D7S820: 10,11
ST   D8S1179: 13,15
ST   FGA: 20,23
ST   TH01: 6,8
ST   TPOX: 8
ST   vWA: 16,18
DI   NCIt; C61251; Metachromatic leukodystrophy
DI   ORDO; Orphanet_512; Metachromatic leukodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_6B33 ! GM00197
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
RX   PubMed=32950023; DOI=10.1016/j.scr.2020.101993;
RA   Kim K.-P., Yoon J., Kim J., Ropke A., Shin B., Han D.W., Greber B.,
RA   Scholer H.R.;
RT   "Generation of a human iPSC line (MPIi007-A) from a patient with
RT   metachromatic leukodystrophy.";
RL   Stem Cell Res. 48:101993-101993(2020).